Canonical Allele Identifier: CA278462

Gene: B4GAT1

Linked Data

• ClinVar Variation Id: 183334
• ClinVar RCV Id: RCV000162167 ; RCV000417196
• dbSNP Id: rs730882237
• MyVariant Identifiers: chr11:g.66114195_66114196insAA (hg19) ; chr11:g.66346724_66346725insAA (hg38)
• PubMed: PMID:23877401 ; PMID:25558065

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66346724_66346725insAA , CM000673.2:g.66346724_66346725insAA	GRCh38
NC_000011.9:g.66114195_66114196insAA , CM000673.1:g.66114195_66114196insAA	GRCh37
NC_000011.8:g.65870771_65870772insAA	NCBI36
NG_033202.1:g.5966_5967insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311181.5:c.821_822insTT MANE Select	ENSP00000309096.4:p.Glu274AspfsTer?
ENST00000311181.4:c.821_822insTT	ENSP00000309096.4:p.Glu274AspfsTer?
NM_006876.2:c.821_822insTT	NP_006867.1:p.Glu274AspfsTer?
NM_006876.3:c.821_822insTT MANE Select	NP_006867.1:p.Glu274AspfsTer?