HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269101_31269102del , CM000668.2:g.31269101_31269102del | GRCh38 |
NC_000006.11:g.31236878_31236879del , CM000668.1:g.31236878_31236879del | GRCh37 |
NC_000006.10:g.31344857_31344858del | NCBI36 |
NG_029422.2:g.8032_8033del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.*69_*70del MANE Select | ENSP00000365402.5:n.*69_*70del | |
ENST00000376228.9:c.*69_*70del | ENSP00000365402.5:n.*69_*70del | |
ENST00000376237.8:c.*757_*758del | ENSP00000365412.4:n.*757_*758del | |
ENST00000383329.7:c.*69_*70del | ENSP00000372819.3:n.*69_*70del | |
ENST00000466892.5:n.403_404del | ||
ENST00000470363.5:n.928_929del | ||
ENST00000487245.5:n.1529_1530del | ||
NM_002117.5:c.*69_*70del | NP_002108.4:n.*69_*70del | |
NM_002117.6:c.*69_*70del MANE Select | NP_002108.4:n.*69_*70del |