Canonical Allele Identifier: CA808133147

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1324607664
• gnomAD v3: 5-177604325-AG-A
• gnomAD v4: 5-177604325-AG-A
• MyVariant Identifiers: chr5:g.177031327del (hg19) ; chr5:g.177604326del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604327del , CM000667.2:g.177604327del	GRCh38
NC_000005.9:g.177031328del , CM000667.1:g.177031328del	GRCh37
NC_000005.8:g.176963934del	NCBI36
NG_015977.1:g.9210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.199del MANE Select	ENSP00000029410.5:p.Glu67ArgfsTer?
ENST00000029410.9:c.199del	ENSP00000029410.5:p.Glu67ArgfsTer?
ENST00000502420.1:n.178del
ENST00000505433.5:c.199del	ENSP00000425591.1:p.Glu67ArgfsTer?
ENST00000505468.1:c.-144del	ENSP00000420886.1:n.-144del
ENST00000507061.1:c.16del	ENSP00000423868.1:p.Glu6ArgfsTer?
ENST00000510761.1:c.-144del	ENSP00000423438.1:n.-144del
NM_007255.2:c.199del	NP_009186.1:p.Glu67ArgfsTer?
XM_005265805.2:c.-144del	XP_005265862.1:n.-144del
XM_006714816.2:c.-301del	XP_006714879.1:n.-301del
XM_011534421.1:c.-144del	XP_011532723.1:n.-144del
XM_006714816.4:c.-301del	XP_006714879.1:n.-301del
XM_017008999.2:c.-144del	XP_016864488.1:n.-144del
NM_007255.3:c.199del MANE Select	NP_009186.1:p.Glu67ArgfsTer?