HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154078del , CM000681.2:g.55154078del | GRCh38 |
NC_000019.9:g.55665446del , CM000681.1:g.55665446del | GRCh37 |
NC_000019.8:g.60357258del | NCBI36 |
NG_007866.2:g.8656del , LRG_432:g.8656del | |
NG_011829.2:g.162del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.502del MANE Select | ENSP00000341838.5:p.Asp168ThrfsTer9 | |
ENST00000665070.1:c.535del | ENSP00000499482.1:p.Asp179ThrfsTer9 | |
ENST00000344887.9:c.502del | ENSP00000341838.5:p.Asp168ThrfsTer9 | |
ENST00000585806.5:n.501del | ||
ENST00000588882.1:c.427del | ENSP00000466729.1:p.Asp143ThrfsTer9 | |
ENST00000589864.1:n.330del | ||
NM_000363.4:c.502del , LRG_432t1:c.502del | NP_000354.4:p.Asp168ThrfsTer9 | |
NM_000363.5:c.502del MANE Select | NP_000354.4:p.Asp168ThrfsTer9 |