Linked Data
dbSNP Id:
rs902383747
gnomAD v2:
14-55350715-AG-A
gnomAD v3:
14-54883997-AG-A
gnomAD v4:
14-54883997-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54883998del , CM000676.2:g.54883998del | GRCh38 |
| NC_000014.8:g.55350716del , CM000676.1:g.55350716del | GRCh37 |
| NC_000014.7:g.54420466del | NCBI36 |
| NG_008647.1:g.23827del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491895.7:c.343+18323del MANE Select | ENSP00000419045.2:n.343+18323del | |
| ENST00000254299.8:n.491+18323del | ||
| ENST00000395514.5:c.343+18323del | ENSP00000378890.1:n.343+18323del | |
| ENST00000395521.6:n.126+18323del | ||
| ENST00000491895.6:c.343+18323del | ENSP00000419045.2:n.343+18323del | |
| ENST00000536224.2:c.343+18323del | ENSP00000445246.2:n.343+18323del | |
| ENST00000543643.6:c.343+18323del | ENSP00000444011.2:n.343+18323del | |
| ENST00000622544.4:c.343+18323del | ENSP00000477796.1:n.343+18323del | |
| NM_000161.2:c.343+18323del | NP_000152.1:n.343+18323del | |
| NM_001024024.1:c.343+18323del | NP_001019195.1:n.343+18323del | |
| NM_001024070.1:c.343+18323del | NP_001019241.1:n.343+18323del | |
| NM_001024071.1:c.343+18323del | NP_001019242.1:n.343+18323del | |
| XM_005267530.1:c.343+18323del | XP_005267587.1:n.343+18323del | |
| XM_011536643.1:c.343+18323del | XP_011534945.1:n.343+18323del | |
| NM_000161.3:c.343+18323del MANE Select | NP_000152.1:n.343+18323del | |
| NM_001024070.2:c.343+18323del | NP_001019241.1:n.343+18323del | |
| NM_001024071.2:c.343+18323del | NP_001019242.1:n.343+18323del | |
| NM_001024024.2:c.343+18323del | NP_001019195.1:n.343+18323del |