Canonical Allele Identifier: CA192430282

Gene: B4GALT1

Linked Data

• dbSNP Id: rs34636838
• gnomAD v2: 9-33122509-AAAAT-A
• gnomAD v3: 9-33122511-AAAAT-A
• gnomAD v4: 9-33122511-AAAAT-A
• MyVariant Identifiers: chr9:g.33122510_33122513del (hg19) ; chr9:g.33122512_33122515del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33122531_33122534del , CM000671.2:g.33122531_33122534del	GRCh38
NC_000009.11:g.33122529_33122532del , CM000671.1:g.33122529_33122532del	GRCh37
NC_000009.10:g.33112529_33112532del	NCBI36
NG_008919.1:g.49844_49847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379731.5:c.649-1909_649-1906del MANE Select	ENSP00000369055.4:n.649-1909_649-1906del
ENST00000379731.4:c.649-1909_649-1906del	ENSP00000369055.4:n.649-1909_649-1906del
ENST00000535206.5:c.648+12674_648+12677del	ENSP00000440341.1:n.648+12674_648+12677del
NM_001497.3:c.649-1909_649-1906del	NP_001488.2:n.649-1909_649-1906del
XM_005251440.3:c.649-1909_649-1906del	XP_005251497.1:n.649-1909_649-1906del
XM_005251440.5:c.649-1909_649-1906del	XP_005251497.1:n.649-1909_649-1906del
NM_001378495.1:c.610-1909_610-1906del	NP_001365424.1:n.610-1909_610-1906del
NM_001378496.1:c.649-1909_649-1906del	NP_001365425.1:n.649-1909_649-1906del
NM_001378497.1:c.648+12674_648+12677del	NP_001365426.1:n.648+12674_648+12677del
NM_001497.4:c.649-1909_649-1906del MANE Select	NP_001488.2:n.649-1909_649-1906del