WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
371258
dbSNP Id:
rs1057517131
gnomAD v3:
9-95249182-T-TGA
gnomAD v4:
9-95249182-T-TGA
MyVariant Identifiers:
chr9:g.98011465_98011466dupGA (hg19)
chr9:g.98011464_98011465insGA (hg19)
chr9:g.95249183_95249184dupGA (hg38)
chr9:g.95249182_95249183insGA (hg38)
PubMed:
PMID:8639804
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95249183_95249184dup , CM000671.2:g.95249183_95249184dup | GRCh38 |
| NC_000009.11:g.98011465_98011466dup , CM000671.1:g.98011465_98011466dup | GRCh37 |
| NC_000009.10:g.97051286_97051287dup | NCBI36 |
| NG_011707.1:g.73526_73527dup , LRG_497:g.73526_73527dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696261.1:n.354_355dup | ||
| ENST00000696262.1:c.108_109dup | ENSP00000512510.1:p.His37LeufsTer10 | |
| ENST00000696263.1:n.363_364dup | ||
| ENST00000289081.8:c.108_109dup MANE Select | ENSP00000289081.3:p.His37LeufsTer10 | |
| ENST00000375305.6:c.108_109dup | ENSP00000364454.1:p.His37LeufsTer10 | |
| ENST00000490972.7:c.108_109dup | ENSP00000479931.1:p.His37LeufsTer10 | |
| ENST00000636777.1:n.166_167dup | ||
| ENST00000647778.1:c.108_109dup | ENSP00000498125.1:p.His37LeufsTer10 | |
| ENST00000647882.1:c.108_109dup | ENSP00000497025.1:p.His37LeufsTer10 | |
| ENST00000648415.1:n.1746_1747dup | ||
| ENST00000649334.1:c.108_109dup | ENSP00000497735.1:p.His37LeufsTer10 | |
| ENST00000649519.1:c.108_109dup | ENSP00000497630.1:p.His37LeufsTer10 | |
| ENST00000649611.1:c.108_109dup | ENSP00000497986.1:p.His37LeufsTer10 | |
| ENST00000649872.1:c.108_109dup | ENSP00000497195.1:p.His37LeufsTer10 | |
| ENST00000650176.1:n.288_289dup | ||
| ENST00000289081.7:c.108_109dup | ENSP00000289081.3:p.His37LeufsTer10 | |
| ENST00000375305.5:c.108_109dup | ENSP00000364454.1:p.His37LeufsTer10 | |
| ENST00000433829.1:c.108_109dup | ENSP00000406908.1:p.His37LeufsTer10 | |
| ENST00000474949.1:n.370_371dup | ||
| ENST00000490972.6:c.108_109dup | ENSP00000479931.1:p.His37LeufsTer10 | |
| NM_000136.2:c.108_109dup , LRG_497t1:c.108_109dup | NP_000127.2:p.His37LeufsTer10 | |
| NM_001243743.1:c.108_109dup | NP_001230672.1:p.His37LeufsTer10 | |
| NM_001243744.1:c.108_109dup | NP_001230673.1:p.His37LeufsTer10 | |
| XM_006717001.1:c.108_109dup | XP_006717064.1:p.His37LeufsTer10 | |
| XM_006717002.2:c.108_109dup | XP_006717065.1:p.His37LeufsTer10 | |
| XM_006717004.2:c.108_109dup | XP_006717067.1:p.His37LeufsTer10 | |
| XM_011518365.1:c.108_109dup | XP_011516667.1:p.His37LeufsTer10 | |
| XM_011518366.1:c.108_109dup | XP_011516668.1:p.His37LeufsTer10 | |
| XM_011518367.1:c.-494_-493dup | XP_011516669.1:n.-494_-493dup | |
| XM_006717001.3:c.108_109dup | XP_006717064.1:p.His37LeufsTer10 | |
| XM_006717002.4:c.108_109dup | XP_006717065.1:p.His37LeufsTer10 | |
| XM_006717004.4:c.108_109dup | XP_006717067.1:p.His37LeufsTer10 | |
| XM_011518365.3:c.108_109dup | XP_011516667.1:p.His37LeufsTer10 | |
| XM_011518366.3:c.108_109dup | XP_011516668.1:p.His37LeufsTer10 | |
| XM_011518367.2:c.-494_-493dup | XP_011516669.1:n.-494_-493dup | |
| XM_017014452.2:c.-494_-493dup | XP_016869941.1:n.-494_-493dup | |
| XM_017014453.1:c.-494_-493dup | XP_016869942.1:n.-494_-493dup | |
| XM_017014454.1:c.-494_-493dup | XP_016869943.1:n.-494_-493dup | |
| XM_024447451.1:c.108_109dup | XP_024303219.1:p.His37LeufsTer10 | |
| NM_000136.3:c.108_109dup MANE Select | NP_000127.2:p.His37LeufsTer10 | |
| NM_001243743.2:c.108_109dup | NP_001230672.1:p.His37LeufsTer10 | |
| NM_001243744.2:c.108_109dup | NP_001230673.1:p.His37LeufsTer10 |