Canonical Allele Identifier: CA2642524319

Gene: B3GALT6

Linked Data

• gnomAD v4: 1-1232433-C-CCGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1232439_1232442dup , CM000663.2:g.1232439_1232442dup	GRCh38
NC_000001.10:g.1167819_1167822dup , CM000663.1:g.1167819_1167822dup	GRCh37
NC_000001.9:g.1157682_1157685dup	NCBI36
NG_030007.1:g.4631_4634dup
NG_033265.1:g.5191_5194dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379198.5:c.161_164dup MANE Select	ENSP00000368496.2:p.Ala56ArgfsTer?
ENST00000379198.3:c.161_164dup	ENSP00000368496.2:p.Ala56ArgfsTer?
NM_080605.3:c.161_164dup	NP_542172.2:p.Ala56ArgfsTer?
NM_080605.4:c.161_164dup MANE Select	NP_542172.2:p.Ala56ArgfsTer?