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ATXN8OS harmonised with classical PCR tests #304

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27f093f
ATXN8OS harmonised with classical PCR tests
strchive-bot Nov 28, 2025
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strchive-bot Nov 28, 2025
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12 changes: 6 additions & 6 deletions data/STRchive-loci.json
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Expand Up @@ -758,11 +758,11 @@
"disease_id": "SCA8",
"gene": "ATXN8OS",
"chrom": "chr13",
"start_hg38": 70139383,
"start_hg38": 70139353,
"stop_hg38": 70139429,
"start_hg19": 70713515,
"start_hg19": 70713485,
"stop_hg19": 70713561,
"start_t2t": 69361243,
"start_t2t": 69361215,
"stop_t2t": 69361270,
"disease": "Spinocerebellar ataxia type 8",
"inheritance": ["AD"],
Expand All @@ -781,11 +781,11 @@
"year": "1999 [@pmid:10192387]",
"location_in_gene": "Coding Exon 1, or 3' UTR depending on transcript",
"gene_strand": "+",
"reference_motif_reference_orientation": ["CTG"],
"pathogenic_motif_reference_orientation": ["CTG"],
"reference_motif_reference_orientation": ["CTG", "CTA"],
"pathogenic_motif_reference_orientation": ["CTG", "CTA"],
"benign_motif_reference_orientation": [],
"unknown_motif_reference_orientation": [],
"pathogenic_motif_gene_orientation": ["CTG"],
"pathogenic_motif_gene_orientation": ["CTG", "ACT"],
"benign_motif_gene_orientation": [],
"unknown_motif_gene_orientation": [],
"locus_structure": [
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2 changes: 1 addition & 1 deletion data/catalogs/STRchive-disease-loci.T2T-chm13.TRGT.bed
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Expand Up @@ -36,7 +36,7 @@ chr12 6947903 6947941 ID=DRPLA_ATN1;MOTIFS=CAG;STRUC=<TR>
chr12 50468095 50468118 ID=FRA12A_DIP2B;MOTIFS=GGC;STRUC=<TR>
chr12 111575873 111575940 ID=SCA2_ATXN2;MOTIFS=CTG;STRUC=<TR>
chr12 123532573 123532603 ID=OPDM4_RILPL1;MOTIFS=GGC;STRUC=<TR>
chr13 69361213 69361270 ID=SCA8_ATXN8OS;MOTIFS=CTA,CTG;STRUC=<TR>
chr13 69361185 69361270 ID=SCA8_ATXN8OS;MOTIFS=CTA,CTG;STRUC=<TR>
chr13 99196358 99196404 ID=HPE5_ZIC2;MOTIFS=GCN;STRUC=<TR>
chr13 101377549 101377792 ID=SCA27B_FGF14;MOTIFS=GAA,GAAGGA,GAAGAAGAAGAAGCA;STRUC=<TR>
chr14 17522488 17522519 ID=OPMD_PABPN1;MOTIFS=GCN;STRUC=<TR>
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4 changes: 2 additions & 2 deletions data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed
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Expand Up @@ -42,8 +42,8 @@ chr12 6947903 6947941 CAG 3 DRPLA_ATN1
chr12 50468095 50468118 GGC 3 FRA12A_DIP2B
chr12 111575873 111575940 CTG 3 SCA2_ATXN2
chr12 123532573 123532603 GGC 3 OPDM4_RILPL1
chr13 69361213 69361243 CTA 3 SCA8_ATXN8OS_flank
chr13 69361243 69361270 CTG 3 SCA8_ATXN8OS
chr13 69361185 69361215 CTA 3 SCA8_ATXN8OS_flank
chr13 69361215 69361270 CTG 3 SCA8_ATXN8OS
chr13 99196358 99196404 GCN 3 HPE5_ZIC2
chr13 101377549 101377792 GAA 3 SCA27B_FGF14
chr14 17522488 17522519 GCN 3 OPMD_PABPN1
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Binary file modified data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz
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Binary file modified data/catalogs/STRchive-disease-loci.T2T-chm13.atarva.bed.gz.tbi
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2 changes: 1 addition & 1 deletion data/catalogs/STRchive-disease-loci.T2T-chm13.general.bed
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Expand Up @@ -37,7 +37,7 @@ chr12 6947903 6947941 DRPLA_ATN1 ATN1 CAG CAG 48 AD Dentatorubral-Pallidoluysian
chr12 50468095 50468118 FRA12A_DIP2B DIP2B GGC GGC 273 AD Intellectual developmental disorder, FRA12A type
chr12 111575873 111575940 SCA2_ATXN2 ATXN2 CTG CTG 35 AD,AR Spinocerebellar ataxia type 2
chr12 123532573 123532603 OPDM4_RILPL1 RILPL1 GGC GGC 120 AD Oculopharyngodistal myopathy type 4
chr13 69361243 69361270 SCA8_ATXN8OS ATXN8OS CTG CTG 71 AD Spinocerebellar ataxia type 8
chr13 69361215 69361270 SCA8_ATXN8OS ATXN8OS CTG,CTA CTG,CTA 71 AD Spinocerebellar ataxia type 8
chr13 99196358 99196404 HPE5_ZIC2 ZIC2 GCN GCN 25 AD Holoprosencephaly-5
chr13 101377549 101377792 SCA27B_FGF14 FGF14 GAA GAA 320 AD Spinocerebellar ataxia 27B
chr14 17522488 17522519 OPMD_PABPN1 PABPN1 GCN GCN 12 AD,AR Oculopharyngeal muscular dystrophy
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2 changes: 1 addition & 1 deletion data/catalogs/STRchive-disease-loci.T2T-chm13.longTR.bed
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Expand Up @@ -36,7 +36,7 @@ chr12 6947904 6947941 CAG DRPLA_ATN1
chr12 50468096 50468118 GGC FRA12A_DIP2B
chr12 111575874 111575940 CTG SCA2_ATXN2
chr12 123532574 123532603 GGC OPDM4_RILPL1
chr13 69361244 69361270 CTG SCA8_ATXN8OS
chr13 69361216 69361270 CTG,CTA SCA8_ATXN8OS
chr13 99196359 99196404 GCN HPE5_ZIC2
chr13 101377550 101377792 GAA,GAAGGA,GAAGAAGAAGAAGCA SCA27B_FGF14
chr14 17522489 17522519 GCN OPMD_PABPN1
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4 changes: 2 additions & 2 deletions data/catalogs/STRchive-disease-loci.T2T-chm13.straglr.bed
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Expand Up @@ -40,8 +40,8 @@ chr12 6947903 6947941 CAG DRPLA_ATN1 DRPLA_ATN1
chr12 50468095 50468118 GGC FRA12A_DIP2B FRA12A_DIP2B
chr12 111575873 111575940 CTG SCA2_ATXN2 SCA2_ATXN2
chr12 123532573 123532603 GGC OPDM4_RILPL1 OPDM4_RILPL1
chr13 69361213 69361243 CTA SCA8_ATXN8OS SCA8_ATXN8OS_CTA
chr13 69361243 69361270 CTG SCA8_ATXN8OS SCA8_ATXN8OS
chr13 69361185 69361215 CTA SCA8_ATXN8OS SCA8_ATXN8OS_CTA
chr13 69361215 69361270 CTG SCA8_ATXN8OS SCA8_ATXN8OS
chr13 99196358 99196404 GCN HPE5_ZIC2 HPE5_ZIC2
chr13 101377549 101377792 GAA SCA27B_FGF14 SCA27B_FGF14
chr14 17522488 17522519 GCN OPMD_PABPN1 OPMD_PABPN1
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4 changes: 2 additions & 2 deletions data/catalogs/STRchive-disease-loci.T2T-chm13.stranger.json
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Expand Up @@ -504,11 +504,11 @@
},
{
"LocusId": "SCA8_ATXN8OS",
"ReferenceRegion": ["chr13:69361213-69361243", "chr13:69361243-69361270"],
"ReferenceRegion": ["chr13:69361185-69361215", "chr13:69361215-69361270"],
"LocusStructure": "(CTA)*(CTG)*",
"VariantType": ["Repeat", "Repeat"],
"VariantId": ["SCA8_ATXN8OS_CTA", "SCA8_ATXN8OS"],
"PathologicRegion": "chr13:69361243-69361270",
"PathologicRegion": "chr13:69361215-69361270",
"HGNCId": null,
"InheritanceMode": ["AD"],
"DisplayRU": "CTG",
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2 changes: 1 addition & 1 deletion data/catalogs/STRchive-disease-loci.hg19.TRGT.bed
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Expand Up @@ -36,7 +36,7 @@ chr12 7045879 7045938 ID=DRPLA_ATN1;MOTIFS=CAG;STRUC=<TR>
chr12 50898784 50898807 ID=FRA12A_DIP2B;MOTIFS=GGC;STRUC=<TR>
chr12 112036753 112036823 ID=SCA2_ATXN2;MOTIFS=CTG;STRUC=<TR>
chr12 124018267 124018297 ID=OPDM4_RILPL1;MOTIFS=GGC;STRUC=<TR>
chr13 70713485 70713561 ID=SCA8_ATXN8OS;MOTIFS=CTA,CTG;STRUC=<TR>
chr13 70713455 70713561 ID=SCA8_ATXN8OS;MOTIFS=CTA,CTG;STRUC=<TR>
chr13 100637702 100637748 ID=HPE5_ZIC2;MOTIFS=GCN;STRUC=<TR>
chr13 102813924 102814076 ID=SCA27B_FGF14;MOTIFS=GAA,GAAGGA,GAAGAAGAAGAAGCA;STRUC=<TR>
chr14 23790681 23790712 ID=OPMD_PABPN1;MOTIFS=GCN;STRUC=<TR>
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4 changes: 2 additions & 2 deletions data/catalogs/STRchive-disease-loci.hg19.atarva.bed
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Expand Up @@ -42,8 +42,8 @@ chr12 7045879 7045938 CAG 3 DRPLA_ATN1
chr12 50898784 50898807 GGC 3 FRA12A_DIP2B
chr12 112036753 112036823 CTG 3 SCA2_ATXN2
chr12 124018267 124018297 GGC 3 OPDM4_RILPL1
chr13 70713485 70713515 CTA 3 SCA8_ATXN8OS_flank
chr13 70713515 70713561 CTG 3 SCA8_ATXN8OS
chr13 70713455 70713485 CTA 3 SCA8_ATXN8OS_flank
chr13 70713485 70713561 CTG 3 SCA8_ATXN8OS
chr13 100637702 100637748 GCN 3 HPE5_ZIC2
chr13 102813924 102814076 GAA 3 SCA27B_FGF14
chr14 23790681 23790712 GCN 3 OPMD_PABPN1
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Binary file modified data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz
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Binary file modified data/catalogs/STRchive-disease-loci.hg19.atarva.bed.gz.tbi
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2 changes: 1 addition & 1 deletion data/catalogs/STRchive-disease-loci.hg19.general.bed
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Expand Up @@ -37,7 +37,7 @@ chr12 7045879 7045938 DRPLA_ATN1 ATN1 CAG CAG 48 AD Dentatorubral-Pallidoluysian
chr12 50898784 50898807 FRA12A_DIP2B DIP2B GGC GGC 273 AD Intellectual developmental disorder, FRA12A type
chr12 112036753 112036823 SCA2_ATXN2 ATXN2 CTG CTG 35 AD,AR Spinocerebellar ataxia type 2
chr12 124018267 124018297 OPDM4_RILPL1 RILPL1 GGC GGC 120 AD Oculopharyngodistal myopathy type 4
chr13 70713515 70713561 SCA8_ATXN8OS ATXN8OS CTG CTG 71 AD Spinocerebellar ataxia type 8
chr13 70713485 70713561 SCA8_ATXN8OS ATXN8OS CTG,CTA CTG,CTA 71 AD Spinocerebellar ataxia type 8
chr13 100637702 100637748 HPE5_ZIC2 ZIC2 GCN GCN 25 AD Holoprosencephaly-5
chr13 102813924 102814076 SCA27B_FGF14 FGF14 GAA GAA 320 AD Spinocerebellar ataxia 27B
chr14 23790681 23790712 OPMD_PABPN1 PABPN1 GCN GCN 12 AD,AR Oculopharyngeal muscular dystrophy
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2 changes: 1 addition & 1 deletion data/catalogs/STRchive-disease-loci.hg19.longTR.bed
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Expand Up @@ -36,7 +36,7 @@ chr12 7045880 7045938 CAG DRPLA_ATN1
chr12 50898785 50898807 GGC FRA12A_DIP2B
chr12 112036754 112036823 CTG SCA2_ATXN2
chr12 124018268 124018297 GGC OPDM4_RILPL1
chr13 70713516 70713561 CTG SCA8_ATXN8OS
chr13 70713486 70713561 CTG,CTA SCA8_ATXN8OS
chr13 100637703 100637748 GCN HPE5_ZIC2
chr13 102813925 102814076 GAA,GAAGGA,GAAGAAGAAGAAGCA SCA27B_FGF14
chr14 23790682 23790712 GCN OPMD_PABPN1
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4 changes: 2 additions & 2 deletions data/catalogs/STRchive-disease-loci.hg19.straglr.bed
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Expand Up @@ -40,8 +40,8 @@ chr12 7045879 7045938 CAG DRPLA_ATN1 DRPLA_ATN1
chr12 50898784 50898807 GGC FRA12A_DIP2B FRA12A_DIP2B
chr12 112036753 112036823 CTG SCA2_ATXN2 SCA2_ATXN2
chr12 124018267 124018297 GGC OPDM4_RILPL1 OPDM4_RILPL1
chr13 70713485 70713515 CTA SCA8_ATXN8OS SCA8_ATXN8OS_CTA
chr13 70713515 70713561 CTG SCA8_ATXN8OS SCA8_ATXN8OS
chr13 70713455 70713485 CTA SCA8_ATXN8OS SCA8_ATXN8OS_CTA
chr13 70713485 70713561 CTG SCA8_ATXN8OS SCA8_ATXN8OS
chr13 100637702 100637748 GCN HPE5_ZIC2 HPE5_ZIC2
chr13 102813924 102814076 GAA SCA27B_FGF14 SCA27B_FGF14
chr14 23790681 23790712 GCN OPMD_PABPN1 OPMD_PABPN1
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4 changes: 2 additions & 2 deletions data/catalogs/STRchive-disease-loci.hg19.stranger.json
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Expand Up @@ -504,11 +504,11 @@
},
{
"LocusId": "SCA8_ATXN8OS",
"ReferenceRegion": ["chr13:70713485-70713515", "chr13:70713515-70713561"],
"ReferenceRegion": ["chr13:70713455-70713485", "chr13:70713485-70713561"],
"LocusStructure": "(CTA)*(CTG)*",
"VariantType": ["Repeat", "Repeat"],
"VariantId": ["SCA8_ATXN8OS_CTA", "SCA8_ATXN8OS"],
"PathologicRegion": "chr13:70713515-70713561",
"PathologicRegion": "chr13:70713485-70713561",
"HGNCId": null,
"InheritanceMode": ["AD"],
"DisplayRU": "CTG",
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2 changes: 1 addition & 1 deletion data/catalogs/STRchive-disease-loci.hg38.TRGT.bed
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Expand Up @@ -36,7 +36,7 @@ chr12 6936716 6936775 ID=DRPLA_ATN1;MOTIFS=CAG;STRUC=<TR>
chr12 50505001 50505024 ID=FRA12A_DIP2B;MOTIFS=GGC;STRUC=<TR>
chr12 111598949 111599019 ID=SCA2_ATXN2;MOTIFS=CTG;STRUC=<TR>
chr12 123533720 123533750 ID=OPDM4_RILPL1;MOTIFS=GGC;STRUC=<TR>
chr13 70139353 70139429 ID=SCA8_ATXN8OS;MOTIFS=CTA,CTG;STRUC=<TR>
chr13 70139323 70139429 ID=SCA8_ATXN8OS;MOTIFS=CTA,CTG;STRUC=<TR>
chr13 99985448 99985494 ID=HPE5_ZIC2;MOTIFS=GCN;STRUC=<TR>
chr13 102161574 102161726 ID=SCA27B_FGF14;MOTIFS=GAA,GAAGGA,GAAGAAGAAGAAGCA;STRUC=<TR>
chr14 23321472 23321503 ID=OPMD_PABPN1;MOTIFS=GCN;STRUC=<TR>
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4 changes: 2 additions & 2 deletions data/catalogs/STRchive-disease-loci.hg38.atarva.bed
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Expand Up @@ -42,8 +42,8 @@ chr12 6936716 6936775 CAG 3 DRPLA_ATN1
chr12 50505001 50505024 GGC 3 FRA12A_DIP2B
chr12 111598949 111599019 CTG 3 SCA2_ATXN2
chr12 123533720 123533750 GGC 3 OPDM4_RILPL1
chr13 70139353 70139383 CTA 3 SCA8_ATXN8OS_flank
chr13 70139383 70139429 CTG 3 SCA8_ATXN8OS
chr13 70139323 70139353 CTA 3 SCA8_ATXN8OS_flank
chr13 70139353 70139429 CTG 3 SCA8_ATXN8OS
chr13 99985448 99985494 GCN 3 HPE5_ZIC2
chr13 102161574 102161726 GAA 3 SCA27B_FGF14
chr14 23321472 23321503 GCN 3 OPMD_PABPN1
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Binary file modified data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz
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Binary file modified data/catalogs/STRchive-disease-loci.hg38.atarva.bed.gz.tbi
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2 changes: 1 addition & 1 deletion data/catalogs/STRchive-disease-loci.hg38.general.bed
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Expand Up @@ -37,7 +37,7 @@ chr12 6936716 6936775 DRPLA_ATN1 ATN1 CAG CAG 48 AD Dentatorubral-Pallidoluysian
chr12 50505001 50505024 FRA12A_DIP2B DIP2B GGC GGC 273 AD Intellectual developmental disorder, FRA12A type
chr12 111598949 111599019 SCA2_ATXN2 ATXN2 CTG CTG 35 AD,AR Spinocerebellar ataxia type 2
chr12 123533720 123533750 OPDM4_RILPL1 RILPL1 GGC GGC 120 AD Oculopharyngodistal myopathy type 4
chr13 70139383 70139429 SCA8_ATXN8OS ATXN8OS CTG CTG 71 AD Spinocerebellar ataxia type 8
chr13 70139353 70139429 SCA8_ATXN8OS ATXN8OS CTG,CTA CTG,CTA 71 AD Spinocerebellar ataxia type 8
chr13 99985448 99985494 HPE5_ZIC2 ZIC2 GCN GCN 25 AD Holoprosencephaly-5
chr13 102161574 102161726 SCA27B_FGF14 FGF14 GAA GAA 320 AD Spinocerebellar ataxia 27B
chr14 23321472 23321503 OPMD_PABPN1 PABPN1 GCN GCN 12 AD,AR Oculopharyngeal muscular dystrophy
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2 changes: 1 addition & 1 deletion data/catalogs/STRchive-disease-loci.hg38.longTR.bed
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Expand Up @@ -36,7 +36,7 @@ chr12 6936717 6936775 CAG DRPLA_ATN1
chr12 50505002 50505024 GGC FRA12A_DIP2B
chr12 111598950 111599019 CTG SCA2_ATXN2
chr12 123533721 123533750 GGC OPDM4_RILPL1
chr13 70139384 70139429 CTG SCA8_ATXN8OS
chr13 70139354 70139429 CTG,CTA SCA8_ATXN8OS
chr13 99985449 99985494 GCN HPE5_ZIC2
chr13 102161575 102161726 GAA,GAAGGA,GAAGAAGAAGAAGCA SCA27B_FGF14
chr14 23321473 23321503 GCN OPMD_PABPN1
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4 changes: 2 additions & 2 deletions data/catalogs/STRchive-disease-loci.hg38.straglr.bed
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Expand Up @@ -40,8 +40,8 @@ chr12 6936716 6936775 CAG DRPLA_ATN1 DRPLA_ATN1
chr12 50505001 50505024 GGC FRA12A_DIP2B FRA12A_DIP2B
chr12 111598949 111599019 CTG SCA2_ATXN2 SCA2_ATXN2
chr12 123533720 123533750 GGC OPDM4_RILPL1 OPDM4_RILPL1
chr13 70139353 70139383 CTA SCA8_ATXN8OS SCA8_ATXN8OS_CTA
chr13 70139383 70139429 CTG SCA8_ATXN8OS SCA8_ATXN8OS
chr13 70139323 70139353 CTA SCA8_ATXN8OS SCA8_ATXN8OS_CTA
chr13 70139353 70139429 CTG SCA8_ATXN8OS SCA8_ATXN8OS
chr13 99985448 99985494 GCN HPE5_ZIC2 HPE5_ZIC2
chr13 102161574 102161726 GAA SCA27B_FGF14 SCA27B_FGF14
chr14 23321472 23321503 GCN OPMD_PABPN1 OPMD_PABPN1
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4 changes: 2 additions & 2 deletions data/catalogs/STRchive-disease-loci.hg38.stranger.json
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Expand Up @@ -504,11 +504,11 @@
},
{
"LocusId": "SCA8_ATXN8OS",
"ReferenceRegion": ["chr13:70139353-70139383", "chr13:70139383-70139429"],
"ReferenceRegion": ["chr13:70139323-70139353", "chr13:70139353-70139429"],
"LocusStructure": "(CTA)*(CTG)*",
"VariantType": ["Repeat", "Repeat"],
"VariantId": ["SCA8_ATXN8OS_CTA", "SCA8_ATXN8OS"],
"PathologicRegion": "chr13:70139383-70139429",
"PathologicRegion": "chr13:70139353-70139429",
"HGNCId": null,
"InheritanceMode": ["AD"],
"DisplayRU": "CTG",
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8 changes: 4 additions & 4 deletions data/ref-alleles/ref-alleles.T2T-chm13.txt
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Expand Up @@ -227,10 +227,10 @@ CTCCCGAGTG GGC GGC GGC GGC GGC GGC GGC GGC GGC GGC AGCGGGGAGG
CTCCCGAGTG GGC GGC GGC GGC GGC GGC GGC GGC GGC GGC AGCGGGGAGG

SCA8_ATXN8OS
chr13 69361243 69361270 CTG STRchive
chr13 69361213 69361270 CTA,CTG TRGT
AAACCTGGCTTTACTACTACTACTACTACTACTACTACTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CATTTTTTAA
AAACCTGGCT TTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CATTTTTTAA
chr13 69361215 69361270 CTG,CTA STRchive
chr13 69361185 69361270 CTA,CTG TRGT
GGCTAGACCCTGGGTCCTTCATGTTAGAAAACCTGGCTTT A CTA CTA CTA CTA CTA CTA CTA CTA CTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CATTTTTTAA
GGCTAGACCC TGGGTCCTTCATGTTAGAAAAC CTG GCTTTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CATTTTTTAA

HPE5_ZIC2
chr13 99196358 99196404 GCN STRchive
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8 changes: 4 additions & 4 deletions data/ref-alleles/ref-alleles.hg19.txt
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Expand Up @@ -227,10 +227,10 @@ CTCCCGAGTG GGC GGC GGC GGC GGC GGC GGC GGC GGC GGC AGCGGGGAGG
CTCCCGAGTG GGC GGC GGC GGC GGC GGC GGC GGC GGC GGC AGCGGGGAGG

SCA8_ATXN8OS
chr13 70713515 70713561 CTG STRchive
chr13 70713485 70713561 CTA,CTG TRGT
CCTGGCTTTACTACTACTACTACTACTACTACTACTACTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG C ATTTTTTAAA
CCTGGCTTTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG C ATTTTTTAAA
chr13 70713485 70713561 CTG,CTA STRchive
chr13 70713455 70713561 CTA,CTG TRGT
GCTAGACCCTGGGTCCTTCATGTTAGAAAACCTGGCTTTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG C ATTTTTTAAA
GCTAGACCCT GGGTCCTTCATGTTAGAAAAC CTG GCTTTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG C ATTTTTTAAA

HPE5_ZIC2
chr13 100637702 100637748 GCN STRchive
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8 changes: 4 additions & 4 deletions data/ref-alleles/ref-alleles.hg38.txt
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Original file line number Diff line number Diff line change
Expand Up @@ -227,10 +227,10 @@ CTCCCGAGTG GGC GGC GGC GGC GGC GGC GGC GGC GGC GGC AGCGGGGAGG
CTCCCGAGTG GGC GGC GGC GGC GGC GGC GGC GGC GGC GGC AGCGGGGAGG

SCA8_ATXN8OS
chr13 70139383 70139429 CTG STRchive
chr13 70139353 70139429 CTA,CTG TRGT
CCTGGCTTTACTACTACTACTACTACTACTACTACTACTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG C ATTTTTTAAA
CCTGGCTTTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG C ATTTTTTAAA
chr13 70139353 70139429 CTG,CTA STRchive
chr13 70139323 70139429 CTA,CTG TRGT
GCTAGACCCTGGGTCCTTCATGTTAGAAAACCTGGCTTTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG C ATTTTTTAAA
GCTAGACCCT GGGTCCTTCATGTTAGAAAAC CTG GCTTTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTA CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG CTG C ATTTTTTAAA

HPE5_ZIC2
chr13 99985448 99985494 GCN STRchive
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