HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38144261_38144278del , CM000670.2:g.38144261_38144278del | GRCh38 |
NC_000008.10:g.38001779_38001796del , CM000670.1:g.38001779_38001796del | GRCh37 |
NC_000008.9:g.38120936_38120953del | NCBI36 |
NG_011827.1:g.11809_11826del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000276449.9:c.857_*16del MANE Select | ENSP00000276449.3:n.[c.857_*16del;Ter286SerextTer24] | |
ENST00000276449.8:c.857_*16del | ENSP00000276449.3:n.[c.857_*16del;Ter286SerextTer24] | |
ENST00000520114.1:n.2826_2843del | ||
ENST00000522050.1:c.699_716del | ||
NM_000349.2:c.857_*16del | NP_000340.2:n.[c.857_*16del;Ter286SerextTer24] | |
XM_006716392.1:c.763_780del | XP_006716455.1:p.Glu255_Val260del | |
NM_000349.3:c.857_*16del MANE Select | NP_000340.2:n.[c.857_*16del;Ter286SerextTer24] |