Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225622del , CM000668.2:g.3225622del | GRCh38 |
| NC_000006.11:g.3225856del , CM000668.1:g.3225856del | GRCh37 |
| NC_000006.10:g.3170855del | NCBI36 |
| NG_016715.1:g.7115del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.469del MANE Select | ENSP00000259818.6:p.Glu157LysfsTer8 | |
| ENST00000680070.1:n.1399del | ||
| ENST00000681707.1:n.1296del | ||
| ENST00000681757.1:n.774del | ||
| ENST00000259818.7:c.469del | ENSP00000259818.6:p.Glu157LysfsTer8 | |
| ENST00000473006.1:n.586del | ||
| NM_178012.4:c.469del | NP_821080.1:p.Glu157LysfsTer8 | |
| XM_011514571.1:c.253del | XP_011512873.1:p.Glu85LysfsTer8 | |
| NM_178012.5:c.469del MANE Select | NP_821080.1:p.Glu157LysfsTer8 |