Linked Data
gnomAD v4:
3-129530824-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129530827del , CM000665.2:g.129530827del | GRCh38 |
| NC_000003.11:g.129249670del , CM000665.1:g.129249670del | GRCh37 |
| NC_000003.10:g.130732360del | NCBI36 |
| NG_009115.1:g.7189del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.362-49del MANE Select | ENSP00000296271.3:n.362-49del | |
| ENST00000296271.3:c.362-49del | ENSP00000296271.3:n.362-49del | |
| NM_000539.3:c.362-49del MANE Select | NP_000530.1:n.362-49del |