Canonical Allele Identifier: CA1977847451

Gene: B3GAT3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616521_62616525delinsAGCCC , CM000673.2:g.62616521_62616525delinsAGCCC	GRCh38
NC_000011.9:g.62383993_62383997delinsAGCCC , CM000673.1:g.62383993_62383997delinsAGCCC	GRCh37
NC_000011.8:g.62140569_62140573delinsAGCCC	NCBI36
NG_009845.1:g.8781_8785delinsAGCCC
NG_031863.1:g.10651_10655delinsGGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265471.10:c.890_894delinsGGGCT MANE Select	ENSP00000265471.5:p.Arg297=
ENST00000265471.9:c.890_894delinsGGGCT	ENSP00000265471.5:p.Arg297=
ENST00000531383.5:c.890_894delinsGGGCT	ENSP00000431359.1:p.Arg297=
ENST00000532585.5:c.*1012_*1016delinsGGGCT	ENSP00000432604.1:n.*1012_*1016delinsGGGCT
ENST00000534026.5:c.890_894delinsGGGCT	ENSP00000432474.1:p.Arg297=
NM_001288721.1:c.869_873delinsGGGCT	NP_001275650.1:p.Arg290=
NM_001288722.1:c.890_894delinsGGGCT	NP_001275651.1:p.Arg297=
NM_001288723.1:c.890_894delinsGGGCT	NP_001275652.1:p.Arg297=
NM_012200.3:c.890_894delinsGGGCT	NP_036332.2:p.Arg297=
NR_109991.1:n.1108_1112delinsGGGCT
XM_011544936.1:c.869_873delinsGGGCT	XP_011543238.1:p.Arg290=
NM_012200.4:c.890_894delinsGGGCT MANE Select	NP_036332.2:p.Arg297=
NM_001288721.2:c.869_873delinsGGGCT	NP_001275650.1:p.Arg290=
NM_001288722.2:c.890_894delinsGGGCT	NP_001275651.1:p.Arg297=
NM_001288723.2:c.890_894delinsGGGCT	NP_001275652.1:p.Arg297=
NR_109991.2:n.919_923delinsGGGCT