HGVS | Genome Assembly |
---|---|
NC_000002.12:g.184915134_184915135del , CM000664.2:g.184915134_184915135del | GRCh38 |
NC_000002.11:g.185779861_185779862del , CM000664.1:g.185779861_185779862del | GRCh37 |
NC_000002.10:g.185488106_185488107del | NCBI36 |
NG_046950.1:g.321769_321770del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000302277.7:c.256-18469_256-18468del MANE Select | ENSP00000303252.6:n.256-18469_256-18468del | |
ENST00000302277.6:c.256-18469_256-18468del | ENSP00000303252.6:n.256-18469_256-18468del | |
ENST00000613975.1:c.1-18469_1-18468del | ENSP00000483032.1:n.1-18469_1-18468del | |
NM_194250.1:c.256-18469_256-18468del | NP_919226.1:n.256-18469_256-18468del | |
NM_194250.2:c.256-18469_256-18468del MANE Select | NP_919226.1:n.256-18469_256-18468del |