HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48537690_48537691delinsGT , CM000677.2:g.48537690_48537691delinsGT | GRCh38 |
NC_000015.9:g.48829887_48829888delinsGT , CM000677.1:g.48829887_48829888delinsGT | GRCh37 |
NC_000015.8:g.46617179_46617180delinsGT | NCBI36 |
NG_008805.2:g.113098_113099delinsAC , LRG_778:g.113098_113099delinsAC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.656_657delinsAC | ENSP00000453958.2:p.His219= | |
ENST00000674301.2:c.656_657delinsAC | ENSP00000501333.2:p.His219= | |
ENST00000316623.10:c.656_657delinsAC MANE Select | ENSP00000325527.5:p.His219= | |
ENST00000316623.9:c.656_657delinsAC | ENSP00000325527.5:p.His219= | |
ENST00000537463.6:c.636+20_636+21delinsAC | ENSP00000440294.2:n.636+20_636+21delinsAC | |
NM_000138.4:c.656_657delinsAC , LRG_778t1:c.656_657delinsAC | NP_000129.3:p.His219= | |
NM_000138.5:c.656_657delinsAC MANE Select | NP_000129.3:p.His219= |