Canonical Allele Identifier: CA2642524451

Gene: B3GALT6

Linked Data

• gnomAD v4: 1-1232487-C-CCGAGCGCCGCAGCGTGATCCGCAGCACGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1232489_1232519dup , CM000663.2:g.1232489_1232519dup	GRCh38
NC_000001.10:g.1167869_1167899dup , CM000663.1:g.1167869_1167899dup	GRCh37
NC_000001.9:g.1157732_1157762dup	NCBI36
NG_030007.1:g.4550_4580dup
NG_033265.1:g.5241_5271dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379198.5:c.211_241dup MANE Select	ENSP00000368496.2:p.Leu81ArgfsTer?
ENST00000379198.3:c.211_241dup	ENSP00000368496.2:p.Leu81ArgfsTer?
NM_080605.3:c.211_241dup	NP_542172.2:p.Leu81ArgfsTer?
NM_080605.4:c.211_241dup MANE Select	NP_542172.2:p.Leu81ArgfsTer?