HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38145644_38145651del , CM000670.2:g.38145644_38145651del | GRCh38 |
NC_000008.10:g.38003162_38003169del , CM000670.1:g.38003162_38003169del | GRCh37 |
NC_000008.9:g.38122319_38122326del | NCBI36 |
NG_011827.1:g.10433_10440del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000276449.9:c.650+313_650+320del MANE Select | ENSP00000276449.3:n.650+313_650+320del | |
ENST00000276449.8:c.650+313_650+320del | ENSP00000276449.3:n.650+313_650+320del | |
ENST00000520114.1:n.1450_1457del | ||
ENST00000522050.1:c.586+313_586+320del | ||
NM_000349.2:c.650+313_650+320del | NP_000340.2:n.650+313_650+320del | |
XM_006716392.1:c.650+313_650+320del | XP_006716455.1:n.650+313_650+320del | |
NM_000349.3:c.650+313_650+320del MANE Select | NP_000340.2:n.650+313_650+320del |