HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44289742_44289743dup , CM000683.2:g.44289742_44289743dup | GRCh38 |
NC_000021.8:g.45709625_45709626dup , CM000683.1:g.45709625_45709626dup | GRCh37 |
NC_000021.7:g.44534053_44534054dup | NCBI36 |
NG_009556.1:g.8863_8864dup , LRG_18:g.8863_8864dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291582.6:c.738_739dup MANE Select | ENSP00000291582.5:p.Arg247ProfsTer? | |
ENST00000291582.5:c.738_739dup | ENSP00000291582.5:p.Arg247ProfsTer? | |
ENST00000527919.5:n.1471_1472dup | ||
ENST00000530812.5:n.2488_2489dup | ||
NM_000383.3:c.738_739dup | NP_000374.1:p.Arg247ProfsTer? | |
XM_011529551.1:c.738_739dup | XP_011527853.1:p.Arg247ProfsTer? | |
NM_000383.4:c.738_739dup MANE Select | NP_000374.1:p.Arg247ProfsTer? |