HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3586951_3586952insGCGCT , CM000681.2:g.3586951_3586952insGCGCT | GRCh38 |
NC_000019.9:g.3586949_3586950insGCGCT , CM000681.1:g.3586949_3586950insGCGCT | GRCh37 |
NC_000019.8:g.3537949_3537950insGCGCT | NCBI36 |
NG_031943.1:g.6381_6382insGCGCT |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644452.3:c.549_550insGCGCT MANE Select | ENSP00000493901.2:p.Gln184AlafsTer18 | |
ENST00000644946.1:c.549_550insGCGCT | ENSP00000495068.1:p.Gln184AlafsTer18 | |
ENST00000322315.5:c.549_550insGCGCT | ENSP00000319254.5:p.Gln184AlafsTer18 | |
NM_133261.2:c.549_550insGCGCT | NP_573568.1:p.Gln184AlafsTer18 | |
XM_005259492.2:c.549_550insGCGCT | XP_005259549.1:p.Gln184AlafsTer18 | |
XM_005259492.3:c.549_550insGCGCT | XP_005259549.1:p.Gln184AlafsTer18 | |
NM_133261.3:c.549_550insGCGCT MANE Select | NP_573568.1:p.Gln184AlafsTer18 |