HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226661_5226662delinsAG , CM000673.2:g.5226661_5226662delinsAG | GRCh38 |
NC_000011.9:g.5247891_5247892delinsAG , CM000673.1:g.5247891_5247892delinsAG | GRCh37 |
NC_000011.8:g.5204467_5204468delinsAG | NCBI36 |
NG_000007.3:g.70954_70955delinsCT | |
NG_059281.1:g.5410_5411delinsCT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.230_231delinsCT | ENSP00000494175.1:p.Ala77= | |
ENST00000335295.4:c.230_231delinsCT MANE Select | ENSP00000333994.3:p.Ala77= | |
ENST00000380315.2:c.230_231delinsCT | ENSP00000369671.2:p.Ala77= | |
ENST00000475226.1:n.162_163delinsCT | ||
ENST00000485743.1:n.281_282delinsCT | ||
ENST00000633227.1:c.*46_*47delinsCT | ENSP00000488004.1:n.*46_*47delinsCT | |
NM_000518.4:c.230_231delinsCT | NP_000509.1:p.Ala77= | |
NM_000518.5:c.230_231delinsCT MANE Select | NP_000509.1:p.Ala77= |