HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138946041_138946054delinsCTGCAGCCGCTGCG , CM000665.2:g.138946041_138946054delinsCTGCAGCCGCTGCG | GRCh38 |
NC_000003.11:g.138664883_138664896delinsCTGCAGCCGCTGCG , CM000665.1:g.138664883_138664896delinsCTGCAGCCGCTGCG | GRCh37 |
NC_000003.10:g.140147573_140147586delinsCTGCAGCCGCTGCG | NCBI36 |
NG_012454.1:g.6087_6100delinsCGCAGCGGCTGCAG | |
NG_029796.1:g.3808_3821delinsCTGCAGCCGCTGCG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.669_682delinsCGCAGCGGCTGCAG MANE Select | ENSP00000497217.1:p.Ala223= | |
ENST00000330315.3:c.669_682delinsCGCAGCGGCTGCAG | ENSP00000333188.3:p.Ala223= | |
NM_023067.3:c.669_682delinsCGCAGCGGCTGCAG | NP_075555.1:p.Ala223= | |
NM_023067.4:c.669_682delinsCGCAGCGGCTGCAG MANE Select | NP_075555.1:p.Ala223= |