Canonical Allele Identifier: CA587170793

Gene: B4GALT1

Linked Data

• dbSNP Id: rs1214332341
• gnomAD v2: 9-33122340-ACT-A
• gnomAD v3: 9-33122342-ACT-A
• gnomAD v4: 9-33122342-ACT-A
• MyVariant Identifiers: chr9:g.33122341_33122342del (hg19) ; chr9:g.33122343_33122344del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33122345_33122346del , CM000671.2:g.33122345_33122346del	GRCh38
NC_000009.11:g.33122343_33122344del , CM000671.1:g.33122343_33122344del	GRCh37
NC_000009.10:g.33112343_33112344del	NCBI36
NG_008919.1:g.50015_50016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379731.5:c.649-1738_649-1737del MANE Select	ENSP00000369055.4:n.649-1738_649-1737del
ENST00000379731.4:c.649-1738_649-1737del	ENSP00000369055.4:n.649-1738_649-1737del
ENST00000535206.5:c.648+12845_648+12846del	ENSP00000440341.1:n.648+12845_648+12846del
NM_001497.3:c.649-1738_649-1737del	NP_001488.2:n.649-1738_649-1737del
XM_005251440.3:c.649-1738_649-1737del	XP_005251497.1:n.649-1738_649-1737del
XM_005251440.5:c.649-1738_649-1737del	XP_005251497.1:n.649-1738_649-1737del
NM_001378495.1:c.610-1738_610-1737del	NP_001365424.1:n.610-1738_610-1737del
NM_001378496.1:c.649-1738_649-1737del	NP_001365425.1:n.649-1738_649-1737del
NM_001378497.1:c.648+12845_648+12846del	NP_001365426.1:n.648+12845_648+12846del
NM_001497.4:c.649-1738_649-1737del MANE Select	NP_001488.2:n.649-1738_649-1737del