HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138946033_138946061delinsCGCAGCTGCTGCAGCCGCTGCGGCTGCCG , CM000665.2:g.138946033_138946061delinsCGCAGCTGCTGCAGCCGCTGCGGCTGCCG | GRCh38 |
NC_000003.11:g.138664875_138664903delinsCGCAGCTGCTGCAGCCGCTGCGGCTGCCG , CM000665.1:g.138664875_138664903delinsCGCAGCTGCTGCAGCCGCTGCGGCTGCCG | GRCh37 |
NC_000003.10:g.140147565_140147593delinsCGCAGCTGCTGCAGCCGCTGCGGCTGCCG | NCBI36 |
NG_012454.1:g.6080_6108delinsCGGCAGCCGCAGCGGCTGCAGCAGCTGCG | |
NG_029796.1:g.3800_3828delinsCGCAGCTGCTGCAGCCGCTGCGGCTGCCG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.662_690delinsCGGCAGCCGCAGCGGCTGCAGCAGCTGCG MANE Select | ENSP00000497217.1:p.Ala221= | |
ENST00000330315.3:c.662_690delinsCGGCAGCCGCAGCGGCTGCAGCAGCTGCG | ENSP00000333188.3:p.Ala221= | |
NM_023067.3:c.662_690delinsCGGCAGCCGCAGCGGCTGCAGCAGCTGCG | NP_075555.1:p.Ala221= | |
NM_023067.4:c.662_690delinsCGGCAGCCGCAGCGGCTGCAGCAGCTGCG MANE Select | NP_075555.1:p.Ala221= |