Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49950974_49950976del , CM000674.2:g.49950974_49950976del | GRCh38 |
| NC_000012.11:g.50344757_50344759del , CM000674.1:g.50344757_50344759del | GRCh37 |
| NC_000012.10:g.48631024_48631026del | NCBI36 |
| NG_008913.1:g.5234_5236del , LRG_717:g.5234_5236del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.144_146del MANE Select | ENSP00000199280.3:p.Gly49del | |
| ENST00000199280.3:c.144_146del | ENSP00000199280.3:p.Gly49del | |
| ENST00000550862.1:c.144_146del | ENSP00000450022.1:p.Gly49del | |
| ENST00000551526.5:c.144_146del | ENSP00000447148.1:p.Gly49del | |
| NM_000486.5:c.144_146del , LRG_717t1:c.144_146del | NP_000477.1:p.Gly49del | |
| NM_000486.6:c.144_146del MANE Select | NP_000477.1:p.Gly49del |