Canonical Allele Identifier: CA2769581864

Gene: B4GALT7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604313_177604344del , CM000667.2:g.177604313_177604344del	GRCh38
NC_000005.9:g.177031314_177031345del , CM000667.1:g.177031314_177031345del	GRCh37
NC_000005.8:g.176963920_176963951del	NCBI36
NG_015977.1:g.9196_9227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.185_216del MANE Select	ENSP00000029410.5:p.Arg62ThrfsTer10
ENST00000029410.9:c.185_216del	ENSP00000029410.5:p.Arg62ThrfsTer10
ENST00000502420.1:n.164_195del
ENST00000505433.5:c.185_216del	ENSP00000425591.1:p.Arg62ThrfsTer10
ENST00000505468.1:c.-158_-127del	ENSP00000420886.1:n.-158_-127del
ENST00000507061.1:c.2_33del	ENSP00000423868.1:p.Arg1ThrfsTer10
ENST00000510761.1:c.-158_-127del	ENSP00000423438.1:n.-158_-127del
NM_007255.2:c.185_216del	NP_009186.1:p.Arg62ThrfsTer10
XM_005265805.2:c.-158_-127del	XP_005265862.1:n.-158_-127del
XM_006714816.2:c.-315_-284del	XP_006714879.1:n.-315_-284del
XM_011534421.1:c.-158_-127del	XP_011532723.1:n.-158_-127del
XM_006714816.4:c.-315_-284del	XP_006714879.1:n.-315_-284del
XM_017008999.2:c.-158_-127del	XP_016864488.1:n.-158_-127del
NM_007255.3:c.185_216del MANE Select	NP_009186.1:p.Arg62ThrfsTer10