HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52652097del , CM000674.2:g.52652097del | GRCh38 |
NC_000012.11:g.53045881del , CM000674.1:g.53045881del | GRCh37 |
NC_000012.10:g.51332148del | NCBI36 |
NG_008296.1:g.5080del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309680.4:c.47del MANE Select | ENSP00000310861.3:p.Gly16GlufsTer28 | |
ENST00000309680.3:c.47del | ENSP00000310861.3:p.Gly16GlufsTer28 | |
NM_000423.2:c.47del | NP_000414.2:p.Gly16GlufsTer28 | |
NM_000423.3:c.47del MANE Select | NP_000414.2:p.Gly16GlufsTer28 |