HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169541908dup , CM000663.2:g.169541908dup | GRCh38 |
NC_000001.10:g.169511146dup , CM000663.1:g.169511146dup | GRCh37 |
NC_000001.9:g.167777770dup | NCBI36 |
NG_011806.1:g.49626dup , LRG_553:g.49626dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367797.9:c.3184dup MANE Select | ENSP00000356771.3:p.Arg1062LysfsTer4 | |
ENST00000367796.3:c.3199dup | ENSP00000356770.3:p.Arg1067LysfsTer4 | |
ENST00000367797.7:c.3184dup | ENSP00000356771.3:p.Arg1062LysfsTer4 | |
NM_000130.4:c.3184dup , LRG_553t1:c.3184dup | NP_000121.2:p.Arg1062LysfsTer4 | |
XM_017000660.2:c.2773dup | XP_016856149.1:p.Arg925LysfsTer4 | |
NM_000130.5:c.3184dup MANE Select | NP_000121.2:p.Arg1062LysfsTer4 |