Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146229_38146243del , CM000670.2:g.38146229_38146243del | GRCh38 |
| NC_000008.10:g.38003747_38003761del , CM000670.1:g.38003747_38003761del | GRCh37 |
| NC_000008.9:g.38122904_38122918del | NCBI36 |
| NG_011827.1:g.9840_9854del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.465+46_465+60del MANE Select | ENSP00000276449.3:n.465+46_465+60del | |
| ENST00000276449.8:c.465+46_465+60del | ENSP00000276449.3:n.465+46_465+60del | |
| ENST00000520114.1:n.952+46_952+60del | ||
| ENST00000522050.1:c.401+46_401+60del | ||
| NM_000349.2:c.465+46_465+60del | NP_000340.2:n.465+46_465+60del | |
| XM_006716392.1:c.465+46_465+60del | XP_006716455.1:n.465+46_465+60del | |
| NM_000349.3:c.465+46_465+60del MANE Select | NP_000340.2:n.465+46_465+60del |