Canonical Allele Identifier: CA2676759398

Gene: B4GALT7

Linked Data

• gnomAD v4: 5-177608986-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608988del , CM000667.2:g.177608988del	GRCh38
NC_000005.9:g.177035989del , CM000667.1:g.177035989del	GRCh37
NC_000005.8:g.176968595del	NCBI36
NG_015977.1:g.13871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.802del MANE Select	ENSP00000029410.5:p.Gln268ArgfsTer20
ENST00000029410.9:c.802del	ENSP00000029410.5:p.Gln268ArgfsTer20
ENST00000505145.1:n.1900del
ENST00000505433.5:c.*308del	ENSP00000425591.1:n.*308del
ENST00000515353.1:n.1624del
NM_007255.2:c.802del	NP_009186.1:p.Gln268ArgfsTer20
XM_005265805.2:c.460del	XP_005265862.1:p.Gln154ArgfsTer20
XM_006714816.2:c.322del	XP_006714879.1:p.Gln108ArgfsTer20
XM_011534421.1:c.460del	XP_011532723.1:p.Gln154ArgfsTer20
XM_006714816.4:c.322del	XP_006714879.1:p.Gln108ArgfsTer20
XM_017008999.2:c.460del	XP_016864488.1:p.Gln154ArgfsTer20
NM_007255.3:c.802del MANE Select	NP_009186.1:p.Gln268ArgfsTer20