Linked Data
ClinVar Variation Id:
204496
ClinVar RCV Id:
RCV000186565
dbSNP Id:
rs752375653
ExAC:
11:65314282 GC / G
gnomAD v2:
11-65314282-GC-G
gnomAD v3:
11-65546811-GC-G
gnomAD v4:
11-65546811-GC-G
COSMIC:
COSM2165729
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65546817del , CM000673.2:g.65546817del | GRCh38 |
| NC_000011.9:g.65314288del , CM000673.1:g.65314288del | GRCh37 |
| NC_000011.8:g.65070864del | NCBI36 |
| NG_016437.1:g.16417del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526825.6:c.*1479del | ENSP00000435146.2:n.*1479del | |
| ENST00000526927.6:c.1361del | ENSP00000431219.2:p.Gly454AlafsTer7 | |
| ENST00000530866.6:c.1949del | ENSP00000435276.2:p.Gly650AlafsTer7 | |
| ENST00000685178.1:n.1888del | ||
| ENST00000688764.1:n.739del | ||
| ENST00000689505.1:c.2093del | ENSP00000510401.1:p.Gly698AlafsTer7 | |
| ENST00000301873.11:c.2216del MANE Select | ENSP00000301873.5:p.Gly739AlafsTer7 | |
| ENST00000301873.9:c.2216del | ENSP00000301873.5:p.Gly739AlafsTer7 | |
| ENST00000322147.8:c.2216del | ENSP00000326647.4:p.Gly739AlafsTer7 | |
| ENST00000526927.5:c.1167del | ||
| ENST00000527339.1:c.236del | ENSP00000432121.1:p.Gly79AlafsTer7 | |
| ENST00000528516.5:c.*1861del | ENSP00000432350.1:n.*1861del | |
| ENST00000530866.5:c.1949del | ENSP00000435276.1:p.Gly650AlafsTer7 | |
| ENST00000532932.5:c.506del | ENSP00000435530.1:p.Gly169AlafsTer7 | |
| ENST00000536982.5:c.-776del | ENSP00000441912.2:n.-776del | |
| NM_001130144.2:c.2216del | NP_001123616.1:p.Gly739AlafsTer7 | |
| NM_001164266.1:c.1865del | NP_001157738.1:p.Gly622AlafsTer7 | |
| NM_021070.4:c.2216del | NP_066548.2:p.Gly739AlafsTer7 | |
| XM_011545032.1:c.2243del | XP_011543334.1:p.Gly748AlafsTer7 | |
| XM_011545033.1:c.2243del | XP_011543335.1:p.Gly748AlafsTer7 | |
| XR_949928.1:n.2643del | ||
| XM_011545032.2:c.2243del | XP_011543334.1:p.Gly748AlafsTer7 | |
| XM_011545033.3:c.2243del | XP_011543335.1:p.Gly748AlafsTer7 | |
| XM_017017737.2:c.2243del | XP_016873226.1:p.Gly748AlafsTer7 | |
| XR_001747875.2:n.2666del | ||
| XR_949928.3:n.2666del | ||
| NM_001130144.3:c.2216del MANE Select | NP_001123616.1:p.Gly739AlafsTer7 |