Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124746286del , CM000665.2:g.124746286del | GRCh38 |
| NC_000003.11:g.124465133del , CM000665.1:g.124465133del | GRCh37 |
| NC_000003.10:g.125947823del | NCBI36 |
| NG_017037.1:g.20921del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000373.4:c.*2202del MANE Select | NP_000364.1:n.*2202del |
| ENST00000232607.7:c.*2202del MANE Select | ENSP00000232607.2:n.*2202del |
| NM_000373.3:c.*2202del | NP_000364.1:n.*2202del |
| NR_033434.1:n.3597del | |
| NR_033434.2:n.3511del | |
| NR_033437.1:n.3850del | |
| NR_033437.2:n.3764del | |
| ENST00000232607.6:c.*2202del | ENSP00000232607.2:n.*2202del |
| XR_001740253.2:n.3879del |