Canonical Allele Identifier: CA1844936121

Gene: B4GALT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33122526_33122527delinsAT , CM000671.2:g.33122526_33122527delinsAT	GRCh38
NC_000009.11:g.33122524_33122525delinsAT , CM000671.1:g.33122524_33122525delinsAT	GRCh37
NC_000009.10:g.33112524_33112525delinsAT	NCBI36
NG_008919.1:g.49832_49833delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379731.5:c.649-1921_649-1920delinsAT MANE Select	ENSP00000369055.4:n.649-1921_649-1920delinsAT
ENST00000379731.4:c.649-1921_649-1920delinsAT	ENSP00000369055.4:n.649-1921_649-1920delinsAT
ENST00000535206.5:c.648+12662_648+12663delinsAT	ENSP00000440341.1:n.648+12662_648+12663delinsAT
NM_001497.3:c.649-1921_649-1920delinsAT	NP_001488.2:n.649-1921_649-1920delinsAT
XM_005251440.3:c.649-1921_649-1920delinsAT	XP_005251497.1:n.649-1921_649-1920delinsAT
XM_005251440.5:c.649-1921_649-1920delinsAT	XP_005251497.1:n.649-1921_649-1920delinsAT
NM_001378495.1:c.610-1921_610-1920delinsAT	NP_001365424.1:n.610-1921_610-1920delinsAT
NM_001378496.1:c.649-1921_649-1920delinsAT	NP_001365425.1:n.649-1921_649-1920delinsAT
NM_001378497.1:c.648+12662_648+12663delinsAT	NP_001365426.1:n.648+12662_648+12663delinsAT
NM_001497.4:c.649-1921_649-1920delinsAT MANE Select	NP_001488.2:n.649-1921_649-1920delinsAT