Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48419723_48419724del , CM000681.2:g.48419723_48419724del | GRCh38 |
| NC_000019.9:g.48922980_48922981del , CM000681.1:g.48922980_48922981del | GRCh37 |
| NC_000019.8:g.53614792_53614793del | NCBI36 |
| NG_052829.1:g.29849_29850del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263269.4:c.2000_2001del MANE Select | ENSP00000263269.2:p.Val667AspfsTer28 | |
| ENST00000263269.3:c.2000_2001del | ENSP00000263269.2:p.Val667AspfsTer28 | |
| NM_000836.2:c.2000_2001del | NP_000827.2:p.Val667AspfsTer28 | |
| XM_011526872.1:c.2000_2001del | XP_011525174.1:p.Val667AspfsTer28 | |
| NM_000836.4:c.2000_2001del MANE Select | NP_000827.2:p.Val667AspfsTer28 |