HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5225944_5225945del , CM000673.2:g.5225944_5225945del | GRCh38 |
NC_000011.9:g.5247174_5247175del , CM000673.1:g.5247174_5247175del | GRCh37 |
NC_000011.8:g.5203750_5203751del | NCBI36 |
NG_000007.3:g.71671_71672del | |
NG_059281.1:g.6127_6128del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.316-219_316-218del | ENSP00000494175.1:n.316-219_316-218del | |
ENST00000335295.4:c.316-219_316-218del MANE Select | ENSP00000333994.3:n.316-219_316-218del | |
ENST00000475226.1:n.248-219_248-218del | ||
ENST00000633227.1:c.*132-219_*132-218del | ENSP00000488004.1:n.*132-219_*132-218del | |
NM_000518.4:c.316-219_316-218del | NP_000509.1:n.316-219_316-218del | |
NM_000518.5:c.316-219_316-218del MANE Select | NP_000509.1:n.316-219_316-218del |