HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269119del , CM000668.2:g.31269119del | GRCh38 |
NC_000006.11:g.31236896del , CM000668.1:g.31236896del | GRCh37 |
NC_000006.10:g.31344875del | NCBI36 |
NG_029422.2:g.8015del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.*52del MANE Select | ENSP00000365402.5:n.*52del | |
ENST00000376228.9:c.*52del | ENSP00000365402.5:n.*52del | |
ENST00000376237.8:c.*740del | ENSP00000365412.4:n.*740del | |
ENST00000383329.7:c.*52del | ENSP00000372819.3:n.*52del | |
ENST00000466892.5:n.386del | ||
ENST00000470363.5:n.911del | ||
ENST00000487245.5:n.1512del | ||
NM_002117.5:c.*52del | NP_002108.4:n.*52del | |
NM_002117.6:c.*52del MANE Select | NP_002108.4:n.*52del |