Canonical Allele Identifier: CA2739299244

Gene: B4GALT7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604481del , CM000667.2:g.177604481del	GRCh38
NC_000005.9:g.177031482del , CM000667.1:g.177031482del	GRCh37
NC_000005.8:g.176964088del	NCBI36
NG_015977.1:g.9364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.353del MANE Select	ENSP00000029410.5:p.Phe118SerfsTer2
ENST00000029410.9:c.353del	ENSP00000029410.5:p.Phe118SerfsTer2
ENST00000502420.1:n.332del
ENST00000505433.5:c.353del	ENSP00000425591.1:p.Phe118SerfsTer2
ENST00000505468.1:c.11del	ENSP00000420886.1:p.Phe4SerfsTer2
ENST00000507061.1:c.170del	ENSP00000423868.1:p.Phe57SerfsTer2
ENST00000510761.1:c.11del	ENSP00000423438.1:p.Phe4SerfsTer2
NM_007255.2:c.353del	NP_009186.1:p.Phe118SerfsTer2
XM_005265805.2:c.11del	XP_005265862.1:p.Phe4SerfsTer2
XM_006714816.2:c.-147del	XP_006714879.1:n.-147del
XM_011534421.1:c.11del	XP_011532723.1:p.Phe4SerfsTer2
XM_006714816.4:c.-147del	XP_006714879.1:n.-147del
XM_017008999.2:c.11del	XP_016864488.1:p.Phe4SerfsTer2
NM_007255.3:c.353del MANE Select	NP_009186.1:p.Phe118SerfsTer2