Canonical Allele Identifier: CA918895631
Gene: B3GAT3 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62617088_62617089insA , CM000673.2:g.62617088_62617089insA GRCh38
NC_000011.9:g.62384560_62384561insA , CM000673.1:g.62384560_62384561insA GRCh37
NC_000011.8:g.62141136_62141137insA NCBI36
NG_009845.1:g.9348_9349insA
NG_031863.1:g.10087_10088insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265471.10:c.516_517insT MANE Select ENSP00000265471.5:p.Gly173TrpfsTer22
ENST00000265471.9:c.516_517insT ENSP00000265471.5:p.Gly173TrpfsTer22
ENST00000531383.5:c.516_517insT ENSP00000431359.1:p.Gly173TrpfsTer22
ENST00000532585.5:c.*638_*639insT ENSP00000432604.1:n.*638_*639insT
ENST00000533303.1:n.366_367insT
ENST00000534026.5:c.516_517insT ENSP00000432474.1:p.Gly173TrpfsTer22
ENST00000534715.1:c.585_586insT ENSP00000432854.1:p.Gly196TrpfsTer22
NM_001288721.1:c.495_496insT NP_001275650.1:p.Gly166TrpfsTer22
NM_001288722.1:c.516_517insT NP_001275651.1:p.Gly173TrpfsTer22
NM_001288723.1:c.516_517insT NP_001275652.1:p.Gly173TrpfsTer22
NM_012200.3:c.516_517insT NP_036332.2:p.Gly173TrpfsTer22
NR_109991.1:n.734_735insT
XM_011544936.1:c.495_496insT XP_011543238.1:p.Gly166TrpfsTer22
NM_012200.4:c.516_517insT MANE Select NP_036332.2:p.Gly173TrpfsTer22
NM_001288721.2:c.495_496insT NP_001275650.1:p.Gly166TrpfsTer22
NM_001288722.2:c.516_517insT NP_001275651.1:p.Gly173TrpfsTer22
NM_001288723.2:c.516_517insT NP_001275652.1:p.Gly173TrpfsTer22
NR_109991.2:n.545_546insT