HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154094dup , CM000681.2:g.55154094dup | GRCh38 |
NC_000019.9:g.55665462dup , CM000681.1:g.55665462dup | GRCh37 |
NC_000019.8:g.60357274dup | NCBI36 |
NG_007866.2:g.8641dup , LRG_432:g.8641dup | |
NG_011829.2:g.147dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.487dup MANE Select | ENSP00000341838.5:p.Ala163GlyfsTer2 | |
ENST00000665070.1:c.520dup | ENSP00000499482.1:p.Ala174GlyfsTer2 | |
ENST00000344887.9:c.487dup | ENSP00000341838.5:p.Ala163GlyfsTer2 | |
ENST00000585806.5:n.486dup | ||
ENST00000588882.1:c.412dup | ENSP00000466729.1:p.Ala138GlyfsTer2 | |
ENST00000589864.1:n.315dup | ||
NM_000363.4:c.487dup , LRG_432t1:c.487dup | NP_000354.4:p.Ala163GlyfsTer2 | |
NM_000363.5:c.487dup MANE Select | NP_000354.4:p.Ala163GlyfsTer2 |