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 |
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 |