HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226575_5226576delinsAC , CM000673.2:g.5226575_5226576delinsAC | GRCh38 |
NC_000011.9:g.5247805_5247806delinsAC , CM000673.1:g.5247805_5247806delinsAC | GRCh37 |
NC_000011.8:g.5204381_5204382delinsAC | NCBI36 |
NG_000007.3:g.71040_71041delinsGT | |
NG_059281.1:g.5496_5497delinsGT |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.315+1_315+2delinsGT | ENSP00000494175.1:n.315+1_315+2delinsGT | |
ENST00000335295.4:c.315+1_315+2delinsGT MANE Select | ENSP00000333994.3:n.315+1_315+2delinsGT | |
ENST00000475226.1:n.247+1_247+2delinsGT | ||
ENST00000485743.1:n.367_368delinsGT | ||
ENST00000633227.1:c.*131+1_*131+2delinsGT | ENSP00000488004.1:n.*131+1_*131+2delinsGT | |
NM_000518.4:c.315+1_315+2delinsGT | NP_000509.1:n.315+1_315+2delinsGT | |
NM_000518.5:c.315+1_315+2delinsGT MANE Select | NP_000509.1:n.315+1_315+2delinsGT |