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:
4766
ClinVar RCV Id:
RCV000005032
dbSNP Id:
rs587776611
PubMed:
PMID:16088920
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144399325del , CM000664.2:g.144399325del | GRCh38 |
| NC_000002.11:g.145156892del , CM000664.1:g.145156892del | GRCh37 |
| NC_000002.10:g.144873362del | NCBI36 |
| NG_016431.1:g.126067del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000689298.1:c.*1711del | ENSP00000508434.1:n.*1711del | |
| ENST00000440875.6:c.1085del | ENSP00000475553.3:p.Val362AlafsTer25 | |
| ENST00000627532.3:c.1862del MANE Select | ENSP00000487174.1:p.Val621AlafsTer25 | |
| ENST00000636026.2:c.1862del | ENSP00000490776.1:p.Val621AlafsTer25 | |
| ENST00000636179.1:n.1831del | ||
| ENST00000636413.1:c.1526del | ENSP00000490508.1:p.Val509AlafsTer25 | |
| ENST00000636471.1:c.1937del | ENSP00000490317.1:p.Val646AlafsTer25 | |
| ENST00000636732.2:c.*1579del | ENSP00000490175.1:n.*1579del | |
| ENST00000636820.1:n.1962del | ||
| ENST00000637045.1:c.1526del | ENSP00000490141.1:p.Val509AlafsTer25 | |
| ENST00000637304.1:c.1526del | ENSP00000490872.1:p.Val509AlafsTer25 | |
| ENST00000638007.1:c.1526del | ENSP00000490723.1:p.Val509AlafsTer25 | |
| ENST00000638087.1:c.1526del | ENSP00000490673.1:p.Val509AlafsTer25 | |
| ENST00000638128.1:c.1085del | ENSP00000490934.1:p.Val362AlafsTer25 | |
| ENST00000675069.1:c.-133-475del | ENSP00000502467.1:n.-133-475del | |
| ENST00000675145.1:n.2410del | ||
| ENST00000303660.8:c.1859del | ENSP00000302501.4:p.Val620AlafsTer25 | |
| ENST00000409487.7:c.1862del | ENSP00000386854.2:p.Val621AlafsTer25 | |
| ENST00000419938.5:c.655+1874del | ENSP00000394777.2:n.655+1874del | |
| ENST00000427902.5:c.1949del | ENSP00000395496.2:p.Val650AlafsTer25 | |
| ENST00000440875.5:c.1167+212del | ENSP00000475553.2:n.1167+212del | |
| ENST00000539609.7:c.1790del | ENSP00000443792.2:p.Val597AlafsTer25 | |
| ENST00000558170.6:c.1862del | ENSP00000454157.1:p.Val621AlafsTer25 | |
| ENST00000627532.2:c.1862del | ENSP00000487174.1:p.Val621AlafsTer25 | |
| NM_001171653.1:c.1790del | NP_001165124.1:p.Val597AlafsTer25 | |
| NM_014795.3:c.1862del | NP_055610.1:p.Val621AlafsTer25 | |
| XM_006712881.2:c.1862del | XP_006712944.1:p.Val621AlafsTer25 | |
| XM_006712882.2:c.1862del | XP_006712945.1:p.Val621AlafsTer25 | |
| XM_011512231.1:c.1853del | XP_011510533.1:p.Val618AlafsTer25 | |
| XM_011512232.1:c.1841del | XP_011510534.1:p.Val614AlafsTer25 | |
| NM_014795.4:c.1862del MANE Select | NP_055610.1:p.Val621AlafsTer25 | |
| NM_001171653.2:c.1790del | NP_001165124.1:p.Val597AlafsTer25 |