Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81535455del , CM000665.2:g.81535455del | GRCh38 |
| NC_000003.11:g.81584606del , CM000665.1:g.81584606del | GRCh37 |
| NC_000003.10:g.81667296del | NCBI36 |
| NG_011810.1:g.231352del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.1804-124del MANE Select | ENSP00000410833.2:n.1804-124del | |
| ENST00000429644.6:c.1804-124del | ENSP00000410833.2:n.1804-124del | |
| ENST00000484687.1:n.205-124del | ||
| ENST00000489715.1:c.1681-124del | ENSP00000419638.1:n.1681-124del | |
| NM_000158.3:c.1804-124del | NP_000149.3:n.1804-124del | |
| NM_000158.4:c.1804-124del MANE Select | NP_000149.4:n.1804-124del |