Canonical Allele Identifier: CA1123031424

Gene: B4GALT1

Linked Data

• dbSNP Id: rs1840036163
• gnomAD v3: 9-33122516-AAAT-A
• gnomAD v4: 9-33122516-AAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33122519_33122521del , CM000671.2:g.33122519_33122521del	GRCh38
NC_000009.11:g.33122517_33122519del , CM000671.1:g.33122517_33122519del	GRCh37
NC_000009.10:g.33112517_33112519del	NCBI36
NG_008919.1:g.49840_49842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379731.5:c.649-1913_649-1911del MANE Select	ENSP00000369055.4:n.649-1913_649-1911del
ENST00000379731.4:c.649-1913_649-1911del	ENSP00000369055.4:n.649-1913_649-1911del
ENST00000535206.5:c.648+12670_648+12672del	ENSP00000440341.1:n.648+12670_648+12672del
NM_001497.3:c.649-1913_649-1911del	NP_001488.2:n.649-1913_649-1911del
XM_005251440.3:c.649-1913_649-1911del	XP_005251497.1:n.649-1913_649-1911del
XM_005251440.5:c.649-1913_649-1911del	XP_005251497.1:n.649-1913_649-1911del
NM_001378495.1:c.610-1913_610-1911del	NP_001365424.1:n.610-1913_610-1911del
NM_001378496.1:c.649-1913_649-1911del	NP_001365425.1:n.649-1913_649-1911del
NM_001378497.1:c.648+12670_648+12672del	NP_001365426.1:n.648+12670_648+12672del
NM_001497.4:c.649-1913_649-1911del MANE Select	NP_001488.2:n.649-1913_649-1911del