Linked Data
ClinVar Variation Id:
8576
ClinVar RCV Id:
RCV000009107
dbSNP Id:
rs587776698
PubMed:
PMID:17033621
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87663263_87663269del , CM000666.2:g.87663263_87663269del | GRCh38 |
| NC_000004.11:g.88584415_88584421del , CM000666.1:g.88584415_88584421del | GRCh37 |
| NC_000004.10:g.88803439_88803445del | NCBI36 |
| NG_008988.1:g.17962_17968del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282479.8:c.1437_1443del | ENSP00000282479.6:p.Tyr480ThrfsTer? | |
| ENST00000682752.1:c.*1396_*1402del | ENSP00000507436.1:n.*1396_*1402del | |
| ENST00000682781.1:n.1562_1568del | ||
| ENST00000683764.1:n.1757_1763del | ||
| ENST00000684240.1:n.1648_1654del | ||
| ENST00000684389.1:n.1609_1615del | ||
| ENST00000339673.11:c.1485_1491del MANE Select | ENSP00000340935.6:p.Tyr496ThrfsTer? | |
| ENST00000282479.7:c.1437_1443del | ENSP00000282479.6:p.Tyr480ThrfsTer? | |
| ENST00000339673.10:c.1485_1491del | ENSP00000340935.6:p.Tyr496ThrfsTer? | |
| NM_001079911.2:c.1437_1443del | NP_001073380.1:p.Tyr480ThrfsTer? | |
| NM_004407.3:c.1485_1491del | NP_004398.1:p.Tyr496ThrfsTer? | |
| XM_011531705.1:c.1572_1578del | XP_011530007.1:p.Tyr525ThrfsTer? | |
| XM_011531706.1:c.1524_1530del | XP_011530008.1:p.Tyr509ThrfsTer? | |
| XR_938960.1:n.115-5859_115-5853del | ||
| XM_011531705.2:c.1572_1578del | XP_011530007.1:p.Tyr525ThrfsTer? | |
| XM_011531706.2:c.1524_1530del | XP_011530008.1:p.Tyr509ThrfsTer? | |
| XR_938960.2:n.115-5859_115-5853del | ||
| NM_001079911.3:c.1437_1443del | NP_001073380.1:p.Tyr480ThrfsTer? | |
| NM_004407.4:c.1485_1491del MANE Select | NP_004398.1:p.Tyr496ThrfsTer? |