Canonical Allele Identifier: CA1084832515

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1767929016
• gnomAD v3: 5-177604483-CTGAGCAGGAA-C
• gnomAD v4: 5-177604483-CTGAGCAGGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604484_177604493del , CM000667.2:g.177604484_177604493del	GRCh38
NC_000005.9:g.177031485_177031494del , CM000667.1:g.177031485_177031494del	GRCh37
NC_000005.8:g.176964091_176964100del	NCBI36
NG_015977.1:g.9367_9376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.356_365del MANE Select	ENSP00000029410.5:p.Leu119ArgfsTer?
ENST00000029410.9:c.356_365del	ENSP00000029410.5:p.Leu119ArgfsTer?
ENST00000502420.1:n.335_344del
ENST00000505433.5:c.356_365del	ENSP00000425591.1:p.Leu119ArgfsTer?
ENST00000505468.1:c.14_23del	ENSP00000420886.1:p.Leu5ArgfsTer?
ENST00000507061.1:c.173_182del	ENSP00000423868.1:p.Leu58ArgfsTer?
ENST00000510761.1:c.14_23del	ENSP00000423438.1:p.Leu5ArgfsTer?
NM_007255.2:c.356_365del	NP_009186.1:p.Leu119ArgfsTer?
XM_005265805.2:c.14_23del	XP_005265862.1:p.Leu5ArgfsTer?
XM_006714816.2:c.-144_-135del	XP_006714879.1:n.-144_-135del
XM_011534421.1:c.14_23del	XP_011532723.1:p.Leu5ArgfsTer?
XM_006714816.4:c.-144_-135del	XP_006714879.1:n.-144_-135del
XM_017008999.2:c.14_23del	XP_016864488.1:p.Leu5ArgfsTer?
NM_007255.3:c.356_365del MANE Select	NP_009186.1:p.Leu119ArgfsTer?