Canonical Allele Identifier: CA2613974159

Gene: B3GAT3

Linked Data

• gnomAD v4: 11-62616585-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616589del , CM000673.2:g.62616589del	GRCh38
NC_000011.9:g.62384061del , CM000673.1:g.62384061del	GRCh37
NC_000011.8:g.62140637del	NCBI36
NG_009845.1:g.8849del
NG_031863.1:g.10590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265471.10:c.829del MANE Select	ENSP00000265471.5:p.Arg277GlyfsTer9
ENST00000265471.9:c.829del	ENSP00000265471.5:p.Arg277GlyfsTer9
ENST00000531383.5:c.829del	ENSP00000431359.1:p.Arg277GlyfsTer9
ENST00000532585.5:c.*951del	ENSP00000432604.1:n.*951del
ENST00000534026.5:c.829del	ENSP00000432474.1:p.Arg277GlyfsTer9
NM_001288721.1:c.808del	NP_001275650.1:p.Arg270GlyfsTer9
NM_001288722.1:c.829del	NP_001275651.1:p.Arg277GlyfsTer9
NM_001288723.1:c.829del	NP_001275652.1:p.Arg277GlyfsTer9
NM_012200.3:c.829del	NP_036332.2:p.Arg277GlyfsTer9
NR_109991.1:n.1047del
XM_011544936.1:c.808del	XP_011543238.1:p.Arg270GlyfsTer9
NM_012200.4:c.829del MANE Select	NP_036332.2:p.Arg277GlyfsTer9
NM_001288721.2:c.808del	NP_001275650.1:p.Arg270GlyfsTer9
NM_001288722.2:c.829del	NP_001275651.1:p.Arg277GlyfsTer9
NM_001288723.2:c.829del	NP_001275652.1:p.Arg277GlyfsTer9
NR_109991.2:n.858del