Canonical Allele Identifier: CA2642524737

Gene: B3GALT6

Linked Data

• gnomAD v4: 1-1232607-AGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1232609_1232610del , CM000663.2:g.1232609_1232610del	GRCh38
NC_000001.10:g.1167989_1167990del , CM000663.1:g.1167989_1167990del	GRCh37
NC_000001.9:g.1157852_1157853del	NCBI36
NG_030007.1:g.4459_4460del
NG_033265.1:g.5361_5362del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379198.5:c.331_332del MANE Select	ENSP00000368496.2:p.Arg111GlyfsTer?
ENST00000379198.3:c.331_332del	ENSP00000368496.2:p.Arg111GlyfsTer?
NM_080605.3:c.331_332del	NP_542172.2:p.Arg111GlyfsTer?
NM_080605.4:c.331_332del MANE Select	NP_542172.2:p.Arg111GlyfsTer?