Canonical Allele Identifier: CA2642525276

Gene: B3GALT6

Linked Data

• gnomAD v4: 1-1232706-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1232708del , CM000663.2:g.1232708del	GRCh38
NC_000001.10:g.1168088del , CM000663.1:g.1168088del	GRCh37
NC_000001.9:g.1157951del	NCBI36
NG_030007.1:g.4361del
NG_033265.1:g.5460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379198.5:c.430del MANE Select	ENSP00000368496.2:p.Asp144ThrfsTer?
ENST00000379198.3:c.430del	ENSP00000368496.2:p.Asp144ThrfsTer?
NM_080605.3:c.430del	NP_542172.2:p.Asp144ThrfsTer?
NM_080605.4:c.430del MANE Select	NP_542172.2:p.Asp144ThrfsTer?