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:
188790
dbSNP Id:
rs786204471
gnomAD v2:
15-91310196-C-CAAAT
gnomAD v4:
15-90766966-C-CAAAT
MyVariant Identifiers:
chr15:g.91310196_91310197insAAAT (hg19)
chr15:g.90766966_90766967insAAAT (hg38)
PubMed:
PMID:17407155
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90766966_90766967insAAAT , CM000677.2:g.90766966_90766967insAAAT | GRCh38 |
| NC_000015.9:g.91310196_91310197insAAAT , CM000677.1:g.91310196_91310197insAAAT | GRCh37 |
| NC_000015.8:g.89111200_89111201insAAAT | NCBI36 |
| NG_007272.1:g.54595_54596insAAAT , LRG_20:g.54595_54596insAAAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355112.8:c.2250_2251insAAAT MANE Select | ENSP00000347232.3:p.Leu751LysfsTer25 | |
| ENST00000648453.1:c.2250_2251insAAAT | ENSP00000497646.1:p.Leu751LysfsTer25 | |
| ENST00000680772.1:c.2250_2251insAAAT | ENSP00000506117.1:p.Leu751LysfsTer25 | |
| ENST00000681142.1:c.2250_2251insAAAT | ENSP00000506682.1:p.Leu751LysfsTer25 | |
| ENST00000355112.7:c.2250_2251insAAAT | ENSP00000347232.3:p.Leu751LysfsTer25 | |
| ENST00000559426.5:n.427_428insAAAT | ||
| ENST00000559724.5:c.*1174_*1175insAAAT | ENSP00000453359.1:n.*1174_*1175insAAAT | |
| ENST00000560136.5:n.276_277insAAAT | ||
| ENST00000560509.5:c.2250_2251insAAAT | ENSP00000454158.1:p.Leu751LysfsTer25 | |
| NM_000057.3:c.2250_2251insAAAT | NP_000048.1:p.Leu751LysfsTer25 | |
| NM_001287246.1:c.2250_2251insAAAT | NP_001274175.1:p.Leu751LysfsTer25 | |
| NM_001287247.1:c.2250_2251insAAAT | NP_001274176.1:p.Leu751LysfsTer25 | |
| NM_001287248.1:c.1125_1126insAAAT | NP_001274177.1:p.Leu376LysfsTer25 | |
| XM_006720632.2:c.288_289insAAAT | XP_006720695.1:p.Leu97LysfsTer25 | |
| XM_011521881.1:c.936_937insAAAT | XP_011520183.1:p.Leu313LysfsTer25 | |
| XM_011521882.1:c.2250_2251insAAAT | XP_011520184.1:p.Leu751LysfsTer25 | |
| XM_011521881.2:c.936_937insAAAT | XP_011520183.1:p.Leu313LysfsTer25 | |
| XM_011521882.3:c.2250_2251insAAAT | XP_011520184.1:p.Leu751LysfsTer25 | |
| NM_000057.4:c.2250_2251insAAAT MANE Select | NP_000048.1:p.Leu751LysfsTer25 | |
| NM_001287246.2:c.2250_2251insAAAT | NP_001274175.1:p.Leu751LysfsTer25 | |
| NM_001287247.2:c.2250_2251insAAAT | NP_001274176.1:p.Leu751LysfsTer25 | |
| NM_001287248.2:c.1125_1126insAAAT | NP_001274177.1:p.Leu376LysfsTer25 |