HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31268822_31268823del , CM000668.2:g.31268822_31268823del | GRCh38 |
NC_000006.11:g.31236599_31236600del , CM000668.1:g.31236599_31236600del | GRCh37 |
NC_000006.10:g.31344578_31344579del | NCBI36 |
NG_029422.2:g.8310_8311del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.*347_*348del MANE Select | ENSP00000365402.5:n.*347_*348del | |
ENST00000376228.9:c.*347_*348del | ENSP00000365402.5:n.*347_*348del | |
ENST00000376237.8:c.*1035_*1036del | ENSP00000365412.4:n.*1035_*1036del | |
ENST00000383329.7:c.*347_*348del | ENSP00000372819.3:n.*347_*348del | |
ENST00000466892.5:n.681_682del | ||
ENST00000470363.5:n.1206_1207del | ||
ENST00000487245.5:n.1807_1808del | ||
NM_002117.5:c.*347_*348del | NP_002108.4:n.*347_*348del | |
NM_002117.6:c.*347_*348del MANE Select | NP_002108.4:n.*347_*348del |