HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226638_5226639delinsGT , CM000673.2:g.5226638_5226639delinsGT | GRCh38 |
NC_000011.9:g.5247868_5247869delinsGT , CM000673.1:g.5247868_5247869delinsGT | GRCh37 |
NC_000011.8:g.5204444_5204445delinsGT | NCBI36 |
NG_000007.3:g.70977_70978delinsAC | |
NG_059281.1:g.5433_5434delinsAC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.253_254delinsAC | ENSP00000494175.1:p.Thr85= | |
ENST00000335295.4:c.253_254delinsAC MANE Select | ENSP00000333994.3:p.Thr85= | |
ENST00000380315.2:c.253_254delinsAC | ENSP00000369671.2:p.Thr85= | |
ENST00000475226.1:n.185_186delinsAC | ||
ENST00000485743.1:n.304_305delinsAC | ||
ENST00000633227.1:c.*69_*70delinsAC | ENSP00000488004.1:n.*69_*70delinsAC | |
NM_000518.4:c.253_254delinsAC | NP_000509.1:p.Thr85= | |
NM_000518.5:c.253_254delinsAC MANE Select | NP_000509.1:p.Thr85= |