ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180642123del , CM000665.2:g.180642123del | GRCh38 |
| NC_000003.11:g.180359911del , CM000665.1:g.180359911del | GRCh37 |
| NC_000003.10:g.181842605del | NCBI36 |
| NG_029581.1:g.42373del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.1744del MANE Select | ENSP00000417960.2:p.Val582PhefsTer4 | |
| ENST00000650641.1:n.1631del | ||
| ENST00000651046.1:c.1552del | ENSP00000499175.1:p.Val518PhefsTer4 | |
| ENST00000651922.1:n.1069del | ||
| ENST00000652408.1:n.1881del | ||
| ENST00000442201.6:c.1744del | ENSP00000405708.2:p.Val582PhefsTer4 | |
| ENST00000476379.5:c.1744del | ENSP00000417960.1:p.Val582PhefsTer4 | |
| NM_181426.1:c.1744del | NP_852091.1:p.Val582PhefsTer4 | |
| NM_181426.2:c.1744del MANE Select | NP_852091.1:p.Val582PhefsTer4 |