HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31268966_31268967del , CM000668.2:g.31268966_31268967del | GRCh38 |
NC_000006.11:g.31236743_31236744del , CM000668.1:g.31236743_31236744del | GRCh37 |
NC_000006.10:g.31344722_31344723del | NCBI36 |
NG_029422.2:g.8165_8166del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.*202_*203del MANE Select | ENSP00000365402.5:n.*202_*203del | |
ENST00000376228.9:c.*202_*203del | ENSP00000365402.5:n.*202_*203del | |
ENST00000376237.8:c.*890_*891del | ENSP00000365412.4:n.*890_*891del | |
ENST00000383329.7:c.*202_*203del | ENSP00000372819.3:n.*202_*203del | |
ENST00000466892.5:n.536_537del | ||
ENST00000470363.5:n.1061_1062del | ||
ENST00000487245.5:n.1662_1663del | ||
NM_002117.5:c.*202_*203del | NP_002108.4:n.*202_*203del | |
NM_002117.6:c.*202_*203del MANE Select | NP_002108.4:n.*202_*203del |