Linked Data
ClinVar Variation Id:
372109
ClinVar RCV Id:
RCV000412491
dbSNP Id:
rs1057517653
PubMed:
PMID:20301391
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136676638del , CM000671.2:g.136676638del | GRCh38 |
| NC_000009.11:g.139571090del , CM000671.1:g.139571090del | GRCh37 |
| NC_000009.10:g.138690911del | NCBI36 |
| NG_008090.1:g.15825del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371696.7:c.538del MANE Select | ENSP00000360761.2:p.Asp180ThrfsTer? | |
| ENST00000371694.7:c.492+326del | ENSP00000360759.3:n.492+326del | |
| ENST00000371696.6:c.538del | ENSP00000360761.2:p.Asp180ThrfsTer? | |
| ENST00000472820.1:n.466del | ||
| ENST00000538402.1:c.538del | ENSP00000438919.1:p.Asp180ThrfsTer? | |
| NM_001012727.1:c.492+326del | NP_001012745.1:n.492+326del | |
| NM_006412.3:c.538del | NP_006403.2:p.Asp180ThrfsTer? | |
| NM_006412.4:c.538del MANE Select | NP_006403.2:p.Asp180ThrfsTer? | |
| NM_001012727.2:c.492+326del | NP_001012745.1:n.492+326del |