Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165017685del , CM000665.2:g.165017685del | GRCh38 |
| NC_000003.11:g.164735473del , CM000665.1:g.164735473del | GRCh37 |
| NC_000003.10:g.166218167del | NCBI36 |
| NG_017043.1:g.65818del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001041.4:c.3634-5del MANE Select | NP_001032.2:n.3634-5del |
| ENST00000264382.8:c.3634-5del MANE Select | ENSP00000264382.3:n.3634-5del |
| NM_001041.3:c.3634-5del | NP_001032.2:n.3634-5del |
| ENST00000264382.7:c.3634-5del | ENSP00000264382.3:n.3634-5del |
| XM_011513078.1:c.3535-5del | XP_011511380.1:n.3535-5del |
| XM_011513078.2:c.3535-5del | XP_011511380.1:n.3535-5del |