HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154037del , CM000681.2:g.55154037del | GRCh38 |
NC_000019.9:g.55665405del , CM000681.1:g.55665405del | GRCh37 |
NC_000019.8:g.60357217del | NCBI36 |
NG_007866.2:g.8697del , LRG_432:g.8697del | |
NG_011829.2:g.203del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.543del MANE Select | ENSP00000341838.5:p.Glu182ArgfsTer17 | |
ENST00000665070.1:c.576del | ENSP00000499482.1:p.Glu193ArgfsTer17 | |
ENST00000344887.9:c.543del | ENSP00000341838.5:p.Glu182ArgfsTer17 | |
ENST00000585806.5:n.542del | ||
ENST00000588882.1:c.468del | ENSP00000466729.1:p.Glu157ArgfsTer17 | |
ENST00000589864.1:n.371del | ||
NM_000363.4:c.543del , LRG_432t1:c.543del | NP_000354.4:p.Glu182ArgfsTer17 | |
NM_000363.5:c.543del MANE Select | NP_000354.4:p.Glu182ArgfsTer17 |