Canonical Allele Identifier: CA564901008

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1450072481
• gnomAD v2: 5-177031397-T-TG
• gnomAD v4: 5-177604396-T-TG
• MyVariant Identifiers: chr5:g.177031397_177031398insG (hg19) ; chr5:g.177604396_177604397insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604400dup , CM000667.2:g.177604400dup	GRCh38
NC_000005.9:g.177031401dup , CM000667.1:g.177031401dup	GRCh37
NC_000005.8:g.176964007dup	NCBI36
NG_015977.1:g.9283dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000029410.10:c.272dup MANE Select	ENSP00000029410.5:p.His93ProfsTer?
ENST00000029410.9:c.272dup	ENSP00000029410.5:p.His93ProfsTer?
ENST00000502420.1:n.251dup
ENST00000505433.5:c.272dup	ENSP00000425591.1:p.His93ProfsTer?
ENST00000505468.1:c.-71dup	ENSP00000420886.1:n.-71dup
ENST00000507061.1:c.89dup	ENSP00000423868.1:p.His32ProfsTer?
ENST00000510761.1:c.-71dup	ENSP00000423438.1:n.-71dup
NM_007255.2:c.272dup	NP_009186.1:p.His93ProfsTer?
XM_005265805.2:c.-71dup	XP_005265862.1:n.-71dup
XM_006714816.2:c.-228dup	XP_006714879.1:n.-228dup
XM_011534421.1:c.-71dup	XP_011532723.1:n.-71dup
XM_006714816.4:c.-228dup	XP_006714879.1:n.-228dup
XM_017008999.2:c.-71dup	XP_016864488.1:n.-71dup
NM_007255.3:c.272dup MANE Select	NP_009186.1:p.His93ProfsTer?