Canonical Allele Identifier: CA475129566

Gene: B3GAT3

Linked Data

• dbSNP Id: rs1554968623
• MyVariant Identifiers: chr11:g.62384114_62384122del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62616642_62616650del , CM000673.2:g.62616642_62616650del	GRCh38
NC_000011.9:g.62384114_62384122del , CM000673.1:g.62384114_62384122del	GRCh37
NC_000011.8:g.62140690_62140698del	NCBI36
NG_009845.1:g.8902_8910del
NG_031863.1:g.10526_10534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265471.10:c.765_773del MANE Select	ENSP00000265471.5:p.Phe256_Val258del
ENST00000265471.9:c.765_773del	ENSP00000265471.5:p.Phe256_Val258del
ENST00000531383.5:c.765_773del	ENSP00000431359.1:p.Phe256_Val258del
ENST00000532585.5:c.*887_*895del	ENSP00000432604.1:n.*887_*895del
ENST00000534026.5:c.765_773del	ENSP00000432474.1:p.Phe256_Val258del
NM_001288721.1:c.744_752del	NP_001275650.1:p.Phe249_Val251del
NM_001288722.1:c.765_773del	NP_001275651.1:p.Phe256_Val258del
NM_001288723.1:c.765_773del	NP_001275652.1:p.Phe256_Val258del
NM_012200.3:c.765_773del	NP_036332.2:p.Phe256_Val258del
NR_109991.1:n.983_991del
XM_011544936.1:c.744_752del	XP_011543238.1:p.Phe249_Val251del
NM_012200.4:c.765_773del MANE Select	NP_036332.2:p.Phe256_Val258del
NM_001288721.2:c.744_752del	NP_001275650.1:p.Phe249_Val251del
NM_001288722.2:c.765_773del	NP_001275651.1:p.Phe256_Val258del
NM_001288723.2:c.765_773del	NP_001275652.1:p.Phe256_Val258del
NR_109991.2:n.794_802del