HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154155del , CM000681.2:g.55154155del | GRCh38 |
NC_000019.9:g.55665523del , CM000681.1:g.55665523del | GRCh37 |
NC_000019.8:g.60357335del | NCBI36 |
NG_007866.2:g.8580del , LRG_432:g.8580del | |
NG_011829.2:g.86del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.426del MANE Select | ENSP00000341838.5:p.Thr143ProfsTer5 | |
ENST00000665070.1:c.459del | ENSP00000499482.1:p.Thr154ProfsTer5 | |
ENST00000344887.9:c.426del | ENSP00000341838.5:p.Thr143ProfsTer5 | |
ENST00000585806.5:n.425del | ||
ENST00000586669.5:n.434del | ||
ENST00000588882.1:c.351del | ENSP00000466729.1:p.Thr118ProfsTer5 | |
ENST00000589864.1:n.254del | ||
NM_000363.4:c.426del , LRG_432t1:c.426del | NP_000354.4:p.Thr143ProfsTer5 | |
NM_000363.5:c.426del MANE Select | NP_000354.4:p.Thr143ProfsTer5 |