Canonical Allele Identifier: CA658655619

Gene: B4GALT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33113807dup , CM000671.2:g.33113807dup	GRCh38
NC_000009.11:g.33113805dup , CM000671.1:g.33113805dup	GRCh37
NC_000009.10:g.33103805dup	NCBI36
NG_008919.1:g.58552dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001497.4:c.1031dup MANE Select	NP_001488.2:p.Arg345LysfsTer6
ENST00000379731.5:c.1031dup MANE Select	ENSP00000369055.4:p.Arg345LysfsTer6
NM_001378495.1:c.992dup	NP_001365424.1:p.Arg332LysfsTer6
NM_001378496.1:c.908dup	NP_001365425.1:p.Arg304LysfsTer6
NM_001378497.1:c.649-9026dup	NP_001365426.1:n.649-9026dup
NM_001497.3:c.1031dup	NP_001488.2:p.Arg345LysfsTer6
ENST00000379731.4:c.1031dup	ENSP00000369055.4:p.Arg345LysfsTer6
ENST00000535206.5:c.649-9026dup	ENSP00000440341.1:n.649-9026dup
XM_005251440.3:c.908dup	XP_005251497.1:p.Arg304LysfsTer6
XM_005251440.5:c.908dup	XP_005251497.1:p.Arg304LysfsTer6