HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154073del , CM000681.2:g.55154073del | GRCh38 |
NC_000019.9:g.55665441del , CM000681.1:g.55665441del | GRCh37 |
NC_000019.8:g.60357253del | NCBI36 |
NG_007866.2:g.8660del , LRG_432:g.8660del | |
NG_011829.2:g.166del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.506del MANE Select | ENSP00000341838.5:p.Leu169ArgfsTer8 | |
ENST00000665070.1:c.539del | ENSP00000499482.1:p.Leu180ArgfsTer8 | |
ENST00000344887.9:c.506del | ENSP00000341838.5:p.Leu169ArgfsTer8 | |
ENST00000585806.5:n.505del | ||
ENST00000588882.1:c.431del | ENSP00000466729.1:p.Leu144ArgfsTer8 | |
ENST00000589864.1:n.334del | ||
NM_000363.4:c.506del , LRG_432t1:c.506del | NP_000354.4:p.Leu169ArgfsTer8 | |
NM_000363.5:c.506del MANE Select | NP_000354.4:p.Leu169ArgfsTer8 |