HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271154del , CM000668.2:g.31271154del | GRCh38 |
NC_000006.11:g.31238931del , CM000668.1:g.31238931del | GRCh37 |
NC_000006.10:g.31346910del | NCBI36 |
NG_029422.2:g.5978del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.538del MANE Select | ENSP00000365402.5:p.Leu180Ter | |
ENST00000376228.9:c.538del | ENSP00000365402.5:p.Leu180Ter | |
ENST00000376237.8:c.*125del | ENSP00000365412.4:n.*125del | |
ENST00000383329.7:c.538del | ENSP00000372819.3:p.Leu180Ter | |
ENST00000415537.1:c.536del | ||
ENST00000484378.1:n.807del | ||
ENST00000487245.5:n.897del | ||
ENST00000495835.1:n.727del | ||
NM_002117.5:c.538del | NP_002108.4:p.Leu180Ter | |
NM_002117.6:c.538del MANE Select | NP_002108.4:p.Leu180Ter |