HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269080del , CM000668.2:g.31269080del | GRCh38 |
NC_000006.11:g.31236857del , CM000668.1:g.31236857del | GRCh37 |
NC_000006.10:g.31344836del | NCBI36 |
NG_029422.2:g.8053del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.*90del MANE Select | ENSP00000365402.5:n.*90del | |
ENST00000376228.9:c.*90del | ENSP00000365402.5:n.*90del | |
ENST00000376237.8:c.*778del | ENSP00000365412.4:n.*778del | |
ENST00000383329.7:c.*90del | ENSP00000372819.3:n.*90del | |
ENST00000466892.5:n.424del | ||
ENST00000470363.5:n.949del | ||
ENST00000487245.5:n.1550del | ||
NM_002117.5:c.*90del | NP_002108.4:n.*90del | |
NM_002117.6:c.*90del MANE Select | NP_002108.4:n.*90del |