Canonical Allele Identifier: CA2613974194

Gene: B3GAT3

Linked Data

• gnomAD v4: 11-62616595-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616596_62616597del , CM000673.2:g.62616596_62616597del	GRCh38
NC_000011.9:g.62384068_62384069del , CM000673.1:g.62384068_62384069del	GRCh37
NC_000011.8:g.62140644_62140645del	NCBI36
NG_009845.1:g.8856_8857del
NG_031863.1:g.10579_10580del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265471.10:c.818_819del MANE Select	ENSP00000265471.5:p.Ser273TyrfsTer?
ENST00000265471.9:c.818_819del	ENSP00000265471.5:p.Ser273TyrfsTer?
ENST00000531383.5:c.818_819del	ENSP00000431359.1:p.Ser273TyrfsTer?
ENST00000532585.5:c.*940_*941del	ENSP00000432604.1:n.*940_*941del
ENST00000534026.5:c.818_819del	ENSP00000432474.1:p.Ser273TyrfsTer?
NM_001288721.1:c.797_798del	NP_001275650.1:p.Ser266TyrfsTer?
NM_001288722.1:c.818_819del	NP_001275651.1:p.Ser273TyrfsTer?
NM_001288723.1:c.818_819del	NP_001275652.1:p.Ser273TyrfsTer?
NM_012200.3:c.818_819del	NP_036332.2:p.Ser273TyrfsTer?
NR_109991.1:n.1036_1037del
XM_011544936.1:c.797_798del	XP_011543238.1:p.Ser266TyrfsTer?
NM_012200.4:c.818_819del MANE Select	NP_036332.2:p.Ser273TyrfsTer?
NM_001288721.2:c.797_798del	NP_001275650.1:p.Ser266TyrfsTer?
NM_001288722.2:c.818_819del	NP_001275651.1:p.Ser273TyrfsTer?
NM_001288723.2:c.818_819del	NP_001275652.1:p.Ser273TyrfsTer?
NR_109991.2:n.847_848del