HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55151781_55151782del , CM000681.2:g.55151781_55151782del | GRCh38 |
NC_000019.9:g.55663149_55663150del , CM000681.1:g.55663149_55663150del | GRCh37 |
NC_000019.8:g.60354961_60354962del | NCBI36 |
NG_007866.2:g.10956_10957del , LRG_432:g.10956_10957del | |
NG_011829.2:g.2462_2463del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.*57_*58del MANE Select | ENSP00000341838.5:n.*57_*58del | |
ENST00000665070.1:c.*57_*58del | ENSP00000499482.1:n.*57_*58del | |
ENST00000344887.9:c.*57_*58del | ENSP00000341838.5:n.*57_*58del | |
ENST00000585806.5:n.689_690del | ||
ENST00000588882.1:c.*57_*58del | ENSP00000466729.1:n.*57_*58del | |
ENST00000589864.1:n.518_519del | ||
NM_000363.4:c.*57_*58del , LRG_432t1:c.*57_*58del | NP_000354.4:n.*57_*58del | |
NM_000363.5:c.*57_*58del MANE Select | NP_000354.4:n.*57_*58del |