Canonical Allele Identifier: CA1123031413

Gene: B4GALT1

Linked Data

• gnomAD v3: 9-33122512-AAAT-A
• gnomAD v4: 9-33122512-AAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33122515_33122517del , CM000671.2:g.33122515_33122517del	GRCh38
NC_000009.11:g.33122513_33122515del , CM000671.1:g.33122513_33122515del	GRCh37
NC_000009.10:g.33112513_33112515del	NCBI36
NG_008919.1:g.49844_49846del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379731.5:c.649-1909_649-1907del MANE Select	ENSP00000369055.4:n.649-1909_649-1907del
ENST00000379731.4:c.649-1909_649-1907del	ENSP00000369055.4:n.649-1909_649-1907del
ENST00000535206.5:c.648+12674_648+12676del	ENSP00000440341.1:n.648+12674_648+12676del
NM_001497.3:c.649-1909_649-1907del	NP_001488.2:n.649-1909_649-1907del
XM_005251440.3:c.649-1909_649-1907del	XP_005251497.1:n.649-1909_649-1907del
XM_005251440.5:c.649-1909_649-1907del	XP_005251497.1:n.649-1909_649-1907del
NM_001378495.1:c.610-1909_610-1907del	NP_001365424.1:n.610-1909_610-1907del
NM_001378496.1:c.649-1909_649-1907del	NP_001365425.1:n.649-1909_649-1907del
NM_001378497.1:c.648+12674_648+12676del	NP_001365426.1:n.648+12674_648+12676del
NM_001497.4:c.649-1909_649-1907del MANE Select	NP_001488.2:n.649-1909_649-1907del