Linked Data
ClinVar Variation Id:
372187
ClinVar RCV Id:
RCV000412536
dbSNP Id:
rs1057519078
PubMed:
PMID:27463701
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57581513del , CM000674.2:g.57581513del | GRCh38 |
| NC_000012.11:g.57975296del , CM000674.1:g.57975296del | GRCh37 |
| NC_000012.10:g.56261563del | NCBI36 |
| NG_008155.1:g.36450del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000455537.7:c.2854del MANE Select | ENSP00000408979.2:p.Gln952ArgfsTer? | |
| ENST00000674619.1:c.2875del | ENSP00000502270.1:p.Gln959ArgfsTer? | |
| ENST00000674776.1:c.362del | ENSP00000502434.1:n.362del | |
| ENST00000675634.1:c.349del | ENSP00000502231.1:p.Gln117ArgfsTer? | |
| ENST00000675737.1:n.258del | ||
| ENST00000675882.1:n.2076del | ||
| ENST00000675929.1:n.1412del | ||
| ENST00000676457.1:c.2749del | ENSP00000501588.1:p.Gln917ArgfsTer? | |
| ENST00000286452.5:c.2587del | ENSP00000286452.5:p.Gln863ArgfsTer? | |
| ENST00000455537.6:c.2854del | ENSP00000408979.2:p.Gln952ArgfsTer? | |
| NM_004984.2:c.2854del | NP_004975.2:p.Gln952ArgfsTer? | |
| NM_001354705.1:c.2587del | NP_001341634.1:p.Gln863ArgfsTer? | |
| NM_004984.3:c.2854del | NP_004975.2:p.Gln952ArgfsTer? | |
| XR_002957324.1:n.3087del | ||
| NM_004984.4:c.2854del MANE Select | NP_004975.2:p.Gln952ArgfsTer? | |
| NM_001354705.2:c.2587del | NP_001341634.1:p.Gln863ArgfsTer? |