Canonical Allele Identifier: CA2676759421

Gene: B4GALT7

Linked Data

• gnomAD v4: 5-177609006-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177609011del , CM000667.2:g.177609011del	GRCh38
NC_000005.9:g.177036012del , CM000667.1:g.177036012del	GRCh37
NC_000005.8:g.176968618del	NCBI36
NG_015977.1:g.13894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.825del MANE Select	ENSP00000029410.5:p.Lys275AsnfsTer13
ENST00000029410.9:c.825del	ENSP00000029410.5:p.Lys275AsnfsTer13
ENST00000505145.1:n.1923del
ENST00000505433.5:c.*331del	ENSP00000425591.1:n.*331del
ENST00000515353.1:n.1647del
NM_007255.2:c.825del	NP_009186.1:p.Lys275AsnfsTer13
XM_005265805.2:c.483del	XP_005265862.1:p.Lys161AsnfsTer13
XM_006714816.2:c.345del	XP_006714879.1:p.Lys115AsnfsTer13
XM_011534421.1:c.483del	XP_011532723.1:p.Lys161AsnfsTer13
XM_006714816.4:c.345del	XP_006714879.1:p.Lys115AsnfsTer13
XM_017008999.2:c.483del	XP_016864488.1:p.Lys161AsnfsTer13
NM_007255.3:c.825del MANE Select	NP_009186.1:p.Lys275AsnfsTer13