HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271339_31271341del , CM000668.2:g.31271339_31271341del | GRCh38 |
NC_000006.11:g.31239116_31239118del , CM000668.1:g.31239116_31239118del | GRCh37 |
NC_000006.10:g.31347095_31347097del | NCBI36 |
NG_029422.2:g.5792_5794del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.352_354del MANE Select | ENSP00000365402.5:p.Thr118del | |
ENST00000376228.9:c.352_354del | ENSP00000365402.5:p.Thr118del | |
ENST00000376237.8:c.344-9_344-7del | ENSP00000365412.4:n.344-9_344-7del | |
ENST00000383329.7:c.352_354del | ENSP00000372819.3:p.Thr118del | |
ENST00000415537.1:c.350_352del | ||
ENST00000484378.1:n.621_623del | ||
ENST00000487245.5:n.711_713del | ||
ENST00000495835.1:n.541_543del | ||
NM_002117.5:c.352_354del | NP_002108.4:p.Thr118del | |
NM_002117.6:c.352_354del MANE Select | NP_002108.4:p.Thr118del |