Canonical Allele Identifier: CA1844936340

Gene: B4GALT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33122646_33122647delinsAG , CM000671.2:g.33122646_33122647delinsAG	GRCh38
NC_000009.11:g.33122644_33122645delinsAG , CM000671.1:g.33122644_33122645delinsAG	GRCh37
NC_000009.10:g.33112644_33112645delinsAG	NCBI36
NG_008919.1:g.49712_49713delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379731.5:c.649-2041_649-2040delinsCT MANE Select	ENSP00000369055.4:n.649-2041_649-2040delinsCT
ENST00000379731.4:c.649-2041_649-2040delinsCT	ENSP00000369055.4:n.649-2041_649-2040delinsCT
ENST00000535206.5:c.648+12542_648+12543delinsCT	ENSP00000440341.1:n.648+12542_648+12543delinsCT
NM_001497.3:c.649-2041_649-2040delinsCT	NP_001488.2:n.649-2041_649-2040delinsCT
XM_005251440.3:c.649-2041_649-2040delinsCT	XP_005251497.1:n.649-2041_649-2040delinsCT
XM_005251440.5:c.649-2041_649-2040delinsCT	XP_005251497.1:n.649-2041_649-2040delinsCT
NM_001378495.1:c.610-2041_610-2040delinsCT	NP_001365424.1:n.610-2041_610-2040delinsCT
NM_001378496.1:c.649-2041_649-2040delinsCT	NP_001365425.1:n.649-2041_649-2040delinsCT
NM_001378497.1:c.648+12542_648+12543delinsCT	NP_001365426.1:n.648+12542_648+12543delinsCT
NM_001497.4:c.649-2041_649-2040delinsCT MANE Select	NP_001488.2:n.649-2041_649-2040delinsCT