Canonical Allele Identifier: CA362373535

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1156974915
• gnomAD v2: 5-177031396-C-CT
• gnomAD v3: 5-177604395-C-CT
• gnomAD v4: 5-177604395-C-CT
• MyVariant Identifiers: chr5:g.177031396_177031397insT (hg19) ; chr5:g.177604395_177604396insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604396dup , CM000667.2:g.177604396dup	GRCh38
NC_000005.9:g.177031397dup , CM000667.1:g.177031397dup	GRCh37
NC_000005.8:g.176964003dup	NCBI36
NG_015977.1:g.9279dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000029410.10:c.268dup MANE Select	ENSP00000029410.5:p.Trp90LeufsTer?
ENST00000029410.9:c.268dup	ENSP00000029410.5:p.Trp90LeufsTer?
ENST00000502420.1:n.247dup
ENST00000505433.5:c.268dup	ENSP00000425591.1:p.Trp90LeufsTer?
ENST00000505468.1:c.-75dup	ENSP00000420886.1:n.-75dup
ENST00000507061.1:c.85dup	ENSP00000423868.1:p.Trp29LeufsTer?
ENST00000510761.1:c.-75dup	ENSP00000423438.1:n.-75dup
NM_007255.2:c.268dup	NP_009186.1:p.Trp90LeufsTer?
XM_005265805.2:c.-75dup	XP_005265862.1:n.-75dup
XM_006714816.2:c.-232dup	XP_006714879.1:n.-232dup
XM_011534421.1:c.-75dup	XP_011532723.1:n.-75dup
XM_006714816.4:c.-232dup	XP_006714879.1:n.-232dup
XM_017008999.2:c.-75dup	XP_016864488.1:n.-75dup
NM_007255.3:c.268dup MANE Select	NP_009186.1:p.Trp90LeufsTer?