HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269098del , CM000668.2:g.31269098del | GRCh38 |
NC_000006.11:g.31236875del , CM000668.1:g.31236875del | GRCh37 |
NC_000006.10:g.31344854del | NCBI36 |
NG_029422.2:g.8035del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.*72del MANE Select | ENSP00000365402.5:n.*72del | |
ENST00000376228.9:c.*72del | ENSP00000365402.5:n.*72del | |
ENST00000376237.8:c.*760del | ENSP00000365412.4:n.*760del | |
ENST00000383329.7:c.*72del | ENSP00000372819.3:n.*72del | |
ENST00000466892.5:n.406del | ||
ENST00000470363.5:n.931del | ||
ENST00000487245.5:n.1532del | ||
NM_002117.5:c.*72del | NP_002108.4:n.*72del | |
NM_002117.6:c.*72del MANE Select | NP_002108.4:n.*72del |