UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
132809
ClinVar RCV Id:
RCV000119278
dbSNP Id:
rs587777391
PubMed:
PMID:23911318
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109628727del , CM000663.2:g.109628727del | GRCh38 |
| NC_000001.10:g.110171349del , CM000663.1:g.110171349del | GRCh37 |
| NC_000001.9:g.109972872del | NCBI36 |
| NG_034075.1:g.13915del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256578.8:c.1492del | ENSP00000256578.4:p.Asp498ThrfsTer? | |
| ENST00000358729.9:c.1492del | ENSP00000351573.5:p.Asp498ThrfsTer? | |
| ENST00000369840.7:c.1492del | ENSP00000358855.3:p.Asp498ThrfsTer? | |
| ENST00000474459.6:n.2111del | ||
| ENST00000476688.3:c.1174del | ENSP00000437025.2:p.Asp392ThrfsTer? | |
| ENST00000486282.7:n.2448del | ||
| ENST00000524975.2:n.1973del | ||
| ENST00000525415.2:n.2008del | ||
| ENST00000526301.6:n.1555del | ||
| ENST00000527846.7:n.1347del | ||
| ENST00000528667.7:c.1492del MANE Select | ENSP00000436541.2:p.Asp498ThrfsTer? | |
| ENST00000531203.6:c.1300del | ENSP00000431975.2:p.Asp434ThrfsTer? | |
| ENST00000531734.6:c.1411del | ENSP00000433739.2:p.Asp471ThrfsTer? | |
| ENST00000652975.2:c.*1244del | ENSP00000499620.2:n.*1244del | |
| ENST00000654851.1:n.1334del | ||
| ENST00000655992.1:c.1300del | ENSP00000499740.1:p.Asp434ThrfsTer? | |
| ENST00000659122.2:c.1407+232del | ENSP00000499621.2:n.1407+232del | |
| ENST00000663749.1:c.*1239del | ENSP00000499739.1:n.*1239del | |
| ENST00000667949.2:c.892del | ENSP00000499465.2:p.Asp298ThrfsTer? | |
| ENST00000668421.1:c.*1433del | ENSP00000499362.1:n.*1433del | |
| ENST00000679379.1:c.*1244del | ENSP00000505528.1:n.*1244del | |
| ENST00000679593.1:c.1492del | ENSP00000505999.1:p.Asp498ThrfsTer? | |
| ENST00000679880.1:n.2028del | ||
| ENST00000679892.1:c.*1260del | ENSP00000504882.1:n.*1260del | |
| ENST00000679981.1:c.*1506del | ENSP00000506422.1:n.*1506del | |
| ENST00000680132.1:c.*1442del | ENSP00000505950.1:n.*1442del | |
| ENST00000680148.1:c.*1244del | ENSP00000505994.1:n.*1244del | |
| ENST00000680170.1:n.2357del | ||
| ENST00000680192.1:n.2450del | ||
| ENST00000680519.1:n.1728del | ||
| ENST00000680531.1:c.*1239del | ENSP00000506332.1:n.*1239del | |
| ENST00000680820.1:c.*1244del | ENSP00000505735.1:n.*1244del | |
| ENST00000680832.1:c.*1592del | ENSP00000505774.1:n.*1592del | |
| ENST00000680929.1:c.*1181del | ENSP00000504916.1:n.*1181del | |
| ENST00000681108.1:c.*1245+232del | ENSP00000506701.1:n.*1245+232del | |
| ENST00000681121.1:c.*602del | ENSP00000506466.1:n.*602del | |
| ENST00000681132.1:c.*1258del | ENSP00000506195.1:n.*1258del | |
| ENST00000681181.1:c.*1477del | ENSP00000506038.1:n.*1477del | |
| ENST00000681218.1:c.*1765del | ENSP00000505976.1:n.*1765del | |
| ENST00000681246.1:c.*1148del | ENSP00000505534.1:n.*1148del | |
| ENST00000681496.1:c.*1765del | ENSP00000505948.1:n.*1765del | |
| ENST00000681834.1:n.1831del | ||
| ENST00000681862.1:c.*1618del | ENSP00000505537.1:n.*1618del | |
| ENST00000256578.7:c.1654del | ENSP00000256578.3:p.Asp552ThrfsTer? | |
| ENST00000342115.8:c.1411del | ENSP00000345498.4:p.Asp471ThrfsTer? | |
| ENST00000358729.8:c.1429del | ENSP00000351573.4:p.Asp477ThrfsTer? | |
| ENST00000369840.6:c.1565del | ||
| ENST00000393688.7:c.1297del | ENSP00000377292.3:p.Asp433ThrfsTer? | |
| ENST00000467071.1:n.14del | ||
| ENST00000526301.5:n.1693del | ||
| ENST00000528454.5:c.1300del | ENSP00000437164.1:p.Asp434ThrfsTer? | |
| ENST00000528667.5:c.1654del | ENSP00000436541.1:p.Asp552ThrfsTer? | |
| ENST00000532851.1:n.202del | ||
| ENST00000533132.1:n.194del | ||
| NM_001257360.1:c.1654del | NP_001244289.1:p.Asp552ThrfsTer? | |
| NM_001257361.1:c.1300del | NP_001244290.1:p.Asp434ThrfsTer? | |
| NM_001308170.1:c.1429del | NP_001295099.1:p.Asp477ThrfsTer? | |
| NM_004037.7:c.1654del | NP_004028.3:p.Asp552ThrfsTer? | |
| NM_139156.3:c.1411del | NP_631895.1:p.Asp471ThrfsTer? | |
| NM_203404.1:c.1297del | NP_981949.1:p.Asp433ThrfsTer? | |
| XM_011541247.1:c.1867del | XP_011539549.1:p.Asp623ThrfsTer? | |
| XM_011541248.1:c.1782+232del | XP_011539550.1:n.1782+232del | |
| XR_946607.1:n.1890del | ||
| XM_024446431.1:c.1429del | XP_024302199.1:p.Asp477ThrfsTer? | |
| XM_024446432.1:c.1430+232del | XP_024302200.1:n.1430+232del | |
| XR_002956282.1:n.2065del | ||
| NM_001257360.2:c.1654del | NP_001244289.1:p.Asp552ThrfsTer? | |
| NM_001368809.2:c.1492del MANE Select | NP_001355738.1:p.Asp498ThrfsTer? | |
| NM_004037.9:c.1492del | NP_004028.4:p.Asp498ThrfsTer? | |
| NM_001257361.2:c.1300del | NP_001244290.1:p.Asp434ThrfsTer? | |
| NM_139156.4:c.1411del | NP_631895.1:p.Asp471ThrfsTer? |