HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5225846_5225848del , CM000673.2:g.5225846_5225848del | GRCh38 |
NC_000011.9:g.5247076_5247078del , CM000673.1:g.5247076_5247078del | GRCh37 |
NC_000011.8:g.5203652_5203654del | NCBI36 |
NG_000007.3:g.71771_71773del | |
NG_059281.1:g.6227_6229del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.316-119_316-117del | ENSP00000494175.1:n.316-119_316-117del | |
ENST00000335295.4:c.316-119_316-117del MANE Select | ENSP00000333994.3:n.316-119_316-117del | |
ENST00000475226.1:n.248-119_248-117del | ||
ENST00000633227.1:c.*132-119_*132-117del | ENSP00000488004.1:n.*132-119_*132-117del | |
NM_000518.4:c.316-119_316-117del | NP_000509.1:n.316-119_316-117del | |
NM_000518.5:c.316-119_316-117del MANE Select | NP_000509.1:n.316-119_316-117del |