HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38145796_38145797del , CM000670.2:g.38145796_38145797del | GRCh38 |
NC_000008.10:g.38003314_38003315del , CM000670.1:g.38003314_38003315del | GRCh37 |
NC_000008.9:g.38122471_38122472del | NCBI36 |
NG_011827.1:g.10286_10287del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000276449.9:c.650+166_650+167del MANE Select | ENSP00000276449.3:n.650+166_650+167del | |
ENST00000276449.8:c.650+166_650+167del | ENSP00000276449.3:n.650+166_650+167del | |
ENST00000520114.1:n.1303_1304del | ||
ENST00000522050.1:c.586+166_586+167del | ||
NM_000349.2:c.650+166_650+167del | NP_000340.2:n.650+166_650+167del | |
XM_006716392.1:c.650+166_650+167del | XP_006716455.1:n.650+166_650+167del | |
NM_000349.3:c.650+166_650+167del MANE Select | NP_000340.2:n.650+166_650+167del |