HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94988933_94988934insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG , CM000672.2:g.94988933_94988934insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG | GRCh38 |
NC_000010.10:g.96748690_96748691insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG , CM000672.1:g.96748690_96748691insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG | GRCh37 |
NC_000010.9:g.96738680_96738681insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG | NCBI36 |
NG_008385.1:g.55276_55277insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG | |
NG_008385.2:g.55776_55777insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.1378_1379insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG MANE Select | ENSP00000260682.6:p.Ser460LeufsTer10 | |
ENST00000643112.1:c.*387_*388insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG | ENSP00000496202.1:n.*387_*388insTATGTGTTTATATATATTTCTCTCATTAG... | |
ENST00000260682.6:c.1378_1379insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG | ENSP00000260682.6:p.Ser460LeufsTer10 | |
NM_000771.3:c.1378_1379insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG | NP_000762.2:p.Ser460LeufsTer10 | |
NM_000771.4:c.1378_1379insTATGTGTTTATATATATTTCTCTCATTAGATCATGAGCTTGAAGG MANE Select | NP_000762.2:p.Ser460LeufsTer10 |