HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154102dup , CM000681.2:g.55154102dup | GRCh38 |
NC_000019.9:g.55665470dup , CM000681.1:g.55665470dup | GRCh37 |
NC_000019.8:g.60357282dup | NCBI36 |
NG_007866.2:g.8635dup , LRG_432:g.8635dup | |
NG_011829.2:g.141dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.481dup MANE Select | ENSP00000341838.5:p.Ala161GlyfsTer4 | |
ENST00000665070.1:c.514dup | ENSP00000499482.1:p.Ala172GlyfsTer4 | |
ENST00000344887.9:c.481dup | ENSP00000341838.5:p.Ala161GlyfsTer4 | |
ENST00000585806.5:n.480dup | ||
ENST00000588882.1:c.406dup | ENSP00000466729.1:p.Ala136GlyfsTer4 | |
ENST00000589864.1:n.309dup | ||
NM_000363.4:c.481dup , LRG_432t1:c.481dup | NP_000354.4:p.Ala161GlyfsTer4 | |
NM_000363.5:c.481dup MANE Select | NP_000354.4:p.Ala161GlyfsTer4 |