Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275141_80275143del , CM000672.2:g.80275141_80275143del | GRCh38 |
| NC_000010.10:g.82034897_82034899del , CM000672.1:g.82034897_82034899del | GRCh37 |
| NC_000010.9:g.82024877_82024879del | NCBI36 |
| NG_008083.1:g.19536_19538del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.825_827del MANE Select | ENSP00000361287.3:p.Ala276del | |
| ENST00000372213.7:c.825_827del | ENSP00000361287.3:p.Ala276del | |
| ENST00000480845.1:n.57_59del | ||
| ENST00000485270.5:n.337_339del | ||
| NM_000429.2:c.825_827del | NP_000420.1:p.Ala276del | |
| XM_005269842.3:c.825_827del | XP_005269899.1:p.Ala276del | |
| XM_005269843.3:c.702_704del | XP_005269900.1:p.Ala235del | |
| NM_000429.3:c.825_827del MANE Select | NP_000420.1:p.Ala276del |