Canonical Allele Identifier: CA2676759407

Gene: B4GALT7

Linked Data

• gnomAD v4: 5-177608994-C-CCCTGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608994_177608995insCCTGTGG , CM000667.2:g.177608994_177608995insCCTGTGG	GRCh38
NC_000005.9:g.177035995_177035996insCCTGTGG , CM000667.1:g.177035995_177035996insCCTGTGG	GRCh37
NC_000005.8:g.176968601_176968602insCCTGTGG	NCBI36
NG_015977.1:g.13877_13878insCCTGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.808_809insCCTGTGG MANE Select	ENSP00000029410.5:p.Arg270ProfsTer?
ENST00000029410.9:c.808_809insCCTGTGG	ENSP00000029410.5:p.Arg270ProfsTer?
ENST00000505145.1:n.1906_1907insCCTGTGG
ENST00000505433.5:c.*314_*315insCCTGTGG	ENSP00000425591.1:n.*314_*315insCCTGTGG
ENST00000515353.1:n.1630_1631insCCTGTGG
NM_007255.2:c.808_809insCCTGTGG	NP_009186.1:p.Arg270ProfsTer?
XM_005265805.2:c.466_467insCCTGTGG	XP_005265862.1:p.Arg156ProfsTer?
XM_006714816.2:c.328_329insCCTGTGG	XP_006714879.1:p.Arg110ProfsTer?
XM_011534421.1:c.466_467insCCTGTGG	XP_011532723.1:p.Arg156ProfsTer?
XM_006714816.4:c.328_329insCCTGTGG	XP_006714879.1:p.Arg110ProfsTer?
XM_017008999.2:c.466_467insCCTGTGG	XP_016864488.1:p.Arg156ProfsTer?
NM_007255.3:c.808_809insCCTGTGG MANE Select	NP_009186.1:p.Arg270ProfsTer?