Canonical Allele Identifier: CA1844936314

Gene: B4GALT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33122628_33122629delinsTG , CM000671.2:g.33122628_33122629delinsTG	GRCh38
NC_000009.11:g.33122626_33122627delinsTG , CM000671.1:g.33122626_33122627delinsTG	GRCh37
NC_000009.10:g.33112626_33112627delinsTG	NCBI36
NG_008919.1:g.49730_49731delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379731.5:c.649-2023_649-2022delinsCA MANE Select	ENSP00000369055.4:n.649-2023_649-2022delinsCA
ENST00000379731.4:c.649-2023_649-2022delinsCA	ENSP00000369055.4:n.649-2023_649-2022delinsCA
ENST00000535206.5:c.648+12560_648+12561delinsCA	ENSP00000440341.1:n.648+12560_648+12561delinsCA
NM_001497.3:c.649-2023_649-2022delinsCA	NP_001488.2:n.649-2023_649-2022delinsCA
XM_005251440.3:c.649-2023_649-2022delinsCA	XP_005251497.1:n.649-2023_649-2022delinsCA
XM_005251440.5:c.649-2023_649-2022delinsCA	XP_005251497.1:n.649-2023_649-2022delinsCA
NM_001378495.1:c.610-2023_610-2022delinsCA	NP_001365424.1:n.610-2023_610-2022delinsCA
NM_001378496.1:c.649-2023_649-2022delinsCA	NP_001365425.1:n.649-2023_649-2022delinsCA
NM_001378497.1:c.648+12560_648+12561delinsCA	NP_001365426.1:n.648+12560_648+12561delinsCA
NM_001497.4:c.649-2023_649-2022delinsCA MANE Select	NP_001488.2:n.649-2023_649-2022delinsCA