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:
13847
ClinVar RCV Id:
RCV000014859
dbSNP Id:
rs794726672
PubMed:
PMID:1370874
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54728056_54728057del , CM000666.2:g.54728056_54728057del | GRCh38 |
| NC_000004.11:g.55594222_55594223del , CM000666.1:g.55594222_55594223del | GRCh37 |
| NC_000004.10:g.55288979_55288980del | NCBI36 |
| NG_007456.1:g.75062_75063del , LRG_307:g.75062_75063del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412167.7:c.1916_1917del | ENSP00000390987.3:p.Lys639SerfsTer7 | |
| ENST00000685269.1:n.2003_2004del | ||
| ENST00000686011.1:c.1913_1914del | ENSP00000509704.1:p.Lys638SerfsTer7 | |
| ENST00000687109.1:c.1928_1929del | ENSP00000509371.1:p.Lys643SerfsTer7 | |
| ENST00000687208.1:n.2340_2341del | ||
| ENST00000687246.1:c.1913_1914del | ENSP00000509114.1:p.Lys638SerfsTer7 | |
| ENST00000687265.1:n.2083_2084del | ||
| ENST00000687295.1:c.1913_1914del | ENSP00000509450.1:p.Lys638SerfsTer7 | |
| ENST00000689832.1:c.1928_1929del | ENSP00000509084.1:p.Lys643SerfsTer7 | |
| ENST00000689994.1:c.1415_1416del | ENSP00000509156.1:p.Lys472SerfsTer7 | |
| ENST00000690543.1:c.1916_1917del | ENSP00000508831.1:p.Lys639SerfsTer7 | |
| ENST00000690917.1:n.2143_2144del | ||
| ENST00000691361.1:n.835_836del | ||
| ENST00000692783.1:c.1925_1926del | ENSP00000508733.1:p.Lys642SerfsTer7 | |
| ENST00000692991.1:n.2022_2023del | ||
| ENST00000288135.6:c.1925_1926del MANE Select | ENSP00000288135.6:p.Lys642SerfsTer7 | |
| ENST00000288135.5:c.1925_1926del | ENSP00000288135.5:p.Lys642SerfsTer7 | |
| ENST00000412167.6:c.1913_1914del | ENSP00000390987.2:p.Lys638SerfsTer7 | |
| NM_000222.2:c.1925_1926del , LRG_307t1:c.1925_1926del | NP_000213.1:p.Lys642SerfsTer7 | |
| NM_001093772.1:c.1913_1914del | NP_001087241.1:p.Lys638SerfsTer7 | |
| XM_005265740.1:c.1928_1929del | XP_005265797.1:p.Lys643SerfsTer7 | |
| XM_005265741.1:c.1928_1929del | XP_005265798.1:p.Lys643SerfsTer7 | |
| XM_005265742.1:c.1916_1917del | XP_005265799.1:p.Lys639SerfsTer7 | |
| XM_005265742.3:c.1916_1917del | XP_005265799.1:p.Lys639SerfsTer7 | |
| XM_017008178.1:c.1925_1926del | XP_016863667.1:p.Lys642SerfsTer7 | |
| XM_017008179.1:c.1916_1917del | XP_016863668.1:p.Lys639SerfsTer7 | |
| XM_017008180.1:c.1913_1914del | XP_016863669.1:p.Lys638SerfsTer7 | |
| NM_000222.3:c.1925_1926del MANE Select | NP_000213.1:p.Lys642SerfsTer7 | |
| NM_001093772.2:c.1913_1914del | NP_001087241.1:p.Lys638SerfsTer7 | |
| NM_001385284.1:c.1928_1929del | NP_001372213.1:p.Lys643SerfsTer7 | |
| NM_001385285.1:c.1925_1926del | NP_001372214.1:p.Lys642SerfsTer7 | |
| NM_001385286.1:c.1913_1914del | NP_001372215.1:p.Lys638SerfsTer7 | |
| NM_001385288.1:c.1916_1917del | NP_001372217.1:p.Lys639SerfsTer7 | |
| NM_001385290.1:c.1928_1929del | NP_001372219.1:p.Lys643SerfsTer7 | |
| NM_001385292.1:c.1916_1917del | NP_001372221.1:p.Lys639SerfsTer7 |