HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31268937del , CM000668.2:g.31268937del | GRCh38 |
NC_000006.11:g.31236714del , CM000668.1:g.31236714del | GRCh37 |
NC_000006.10:g.31344693del | NCBI36 |
NG_029422.2:g.8195del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.*232del MANE Select | ENSP00000365402.5:n.*232del | |
ENST00000376228.9:c.*232del | ENSP00000365402.5:n.*232del | |
ENST00000376237.8:c.*920del | ENSP00000365412.4:n.*920del | |
ENST00000383329.7:c.*232del | ENSP00000372819.3:n.*232del | |
ENST00000466892.5:n.566del | ||
ENST00000470363.5:n.1091del | ||
ENST00000487245.5:n.1692del | ||
NM_002117.5:c.*232del | NP_002108.4:n.*232del | |
NM_002117.6:c.*232del MANE Select | NP_002108.4:n.*232del |