Linked Data
ClinVar Variation Id:
372189
ClinVar RCV Id:
RCV000412656
dbSNP Id:
rs1057517673
PubMed:
PMID:27414745
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57581882del , CM000674.2:g.57581882del | GRCh38 |
| NC_000012.11:g.57975665del , CM000674.1:g.57975665del | GRCh37 |
| NC_000012.10:g.56261932del | NCBI36 |
| NG_008155.1:g.36819del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.2922del MANE Select | ENSP00000408979.2:p.Cys975ValfsTer? | |
| ENST00000674619.1:c.2943del | ENSP00000502270.1:p.Cys982ValfsTer? | |
| ENST00000675697.1:c.13del | ||
| ENST00000675737.1:n.326del | ||
| ENST00000675882.1:n.2445del | ||
| ENST00000675929.1:n.1480del | ||
| ENST00000676055.1:c.13del | ||
| ENST00000676457.1:c.2817del | ENSP00000501588.1:p.Cys940ValfsTer? | |
| ENST00000286452.5:c.2655del | ENSP00000286452.5:p.Cys886ValfsTer? | |
| ENST00000455537.6:c.2922del | ENSP00000408979.2:p.Cys975ValfsTer? | |
| ENST00000552227.1:n.205del | ||
| NM_004984.2:c.2922del | NP_004975.2:p.Cys975ValfsTer? | |
| NM_001354705.1:c.2655del | NP_001341634.1:p.Cys886ValfsTer? | |
| NM_004984.3:c.2922del | NP_004975.2:p.Cys975ValfsTer? | |
| XR_002957324.1:n.3155del | ||
| NM_004984.4:c.2922del MANE Select | NP_004975.2:p.Cys975ValfsTer? | |
| NM_001354705.2:c.2655del | NP_001341634.1:p.Cys886ValfsTer? |