Linked Data
ClinVar Variation Id:
3073632
ClinVar RCV Id:
RCV004016638
dbSNP Id:
rs1422050463
gnomAD v4:
14-23424073-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424075del , CM000676.2:g.23424075del | GRCh38 |
| NC_000014.8:g.23893284del , CM000676.1:g.23893284del | GRCh37 |
| NC_000014.7:g.22963124del | NCBI36 |
| NG_007884.1:g.16588del , LRG_384:g.16588del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2755del MANE Select | ENSP00000347507.3:p.Val919Ter | |
| ENST00000355349.3:c.2755del | ENSP00000347507.3:p.Val919Ter | |
| NM_000257.3:c.2755del | NP_000248.2:p.Val919Ter | |
| XR_245686.3:n.2861del | ||
| XM_017021340.1:c.2755del | XP_016876829.1:p.Val919Ter | |
| NM_000257.4:c.2755del MANE Select | NP_000248.2:p.Val919Ter |