ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Joint Max Group AF
0.00000827 (NFE)
Exomes Max Group AF
0.00000879 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180644141del , CM000665.2:g.180644141del | GRCh38 |
| NC_000003.11:g.180361929del , CM000665.1:g.180361929del | GRCh37 |
| NC_000003.10:g.181844623del | NCBI36 |
| NG_029581.1:g.40355del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.1644del MANE Select | ENSP00000417960.2:p.Asp548GlufsTer10 | |
| ENST00000650641.1:n.1531del | ||
| ENST00000650889.1:n.4856del | ||
| ENST00000651046.1:c.1452del | ENSP00000499175.1:p.Asp484GlufsTer10 | |
| ENST00000651818.1:n.1594del | ||
| ENST00000651922.1:n.969del | ||
| ENST00000652024.1:n.4364del | ||
| ENST00000652408.1:n.1781del | ||
| ENST00000442201.6:c.1644del | ENSP00000405708.2:p.Asp548GlufsTer10 | |
| ENST00000476379.5:c.1644del | ENSP00000417960.1:p.Asp548GlufsTer10 | |
| NM_181426.1:c.1644del | NP_852091.1:p.Asp548GlufsTer10 | |
| NM_181426.2:c.1644del MANE Select | NP_852091.1:p.Asp548GlufsTer10 |