Canonical Allele Identifier: CA1977847693

Gene: B3GAT3

Linked Data

• dbSNP Id: rs1943032489

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616596_62616605del , CM000673.2:g.62616596_62616605del	GRCh38
NC_000011.9:g.62384068_62384077del , CM000673.1:g.62384068_62384077del	GRCh37
NC_000011.8:g.62140644_62140653del	NCBI36
NG_009845.1:g.8856_8865del
NG_031863.1:g.10572_10581del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265471.10:c.811_820del MANE Select	ENSP00000265471.5:p.Phe271ProfsTer12
ENST00000265471.9:c.811_820del	ENSP00000265471.5:p.Phe271ProfsTer12
ENST00000531383.5:c.811_820del	ENSP00000431359.1:p.Phe271ProfsTer12
ENST00000532585.5:c.*933_*942del	ENSP00000432604.1:n.*933_*942del
ENST00000534026.5:c.811_820del	ENSP00000432474.1:p.Phe271ProfsTer12
NM_001288721.1:c.790_799del	NP_001275650.1:p.Phe264ProfsTer12
NM_001288722.1:c.811_820del	NP_001275651.1:p.Phe271ProfsTer12
NM_001288723.1:c.811_820del	NP_001275652.1:p.Phe271ProfsTer12
NM_012200.3:c.811_820del	NP_036332.2:p.Phe271ProfsTer12
NR_109991.1:n.1029_1038del
XM_011544936.1:c.790_799del	XP_011543238.1:p.Phe264ProfsTer12
NM_012200.4:c.811_820del MANE Select	NP_036332.2:p.Phe271ProfsTer12
NM_001288721.2:c.790_799del	NP_001275650.1:p.Phe264ProfsTer12
NM_001288722.2:c.811_820del	NP_001275651.1:p.Phe271ProfsTer12
NM_001288723.2:c.811_820del	NP_001275652.1:p.Phe271ProfsTer12
NR_109991.2:n.840_849del