Canonical Allele Identifier: CA2642524955

Gene: B3GALT6

Linked Data

• gnomAD v4: 1-1232644-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1232647del , CM000663.2:g.1232647del	GRCh38
NC_000001.10:g.1168027del , CM000663.1:g.1168027del	GRCh37
NC_000001.9:g.1157890del	NCBI36
NG_030007.1:g.4423del
NG_033265.1:g.5399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379198.5:c.369del MANE Select	ENSP00000368496.2:p.Ala124ArgfsTer?
ENST00000379198.3:c.369del	ENSP00000368496.2:p.Ala124ArgfsTer?
NM_080605.3:c.369del	NP_542172.2:p.Ala124ArgfsTer?
NM_080605.4:c.369del MANE Select	NP_542172.2:p.Ala124ArgfsTer?