Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86578858del , CM000670.2:g.86578858del | GRCh38 |
| NC_000008.10:g.87591086del , CM000670.1:g.87591086del | GRCh37 |
| NC_000008.9:g.87660202del | NCBI36 |
| NG_016980.1:g.169821del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019098.5:c.1937del MANE Select | NP_061971.3:p.Leu646Ter |
| ENST00000320005.6:c.1937del MANE Select | ENSP00000316605.5:p.Leu646Ter |
| NM_019098.4:c.1937del | NP_061971.3:p.Leu646Ter |
| ENST00000320005.5:c.1937del | ENSP00000316605.5:p.Leu646Ter |
| ENST00000517327.5:c.110del | ENSP00000428329.1:p.Leu37Ter |
| ENST00000681546.1:n.1757del | |
| ENST00000681746.1:c.*348del | ENSP00000505959.1:n.*348del |
| XM_011517138.1:c.1523del | XP_011515440.1:p.Leu508Ter |
| XM_011517138.2:c.1523del | XP_011515440.1:p.Leu508Ter |