Canonical Allele Identifier: CA915942738

Gene: B4GALT7

Linked Data

• ClinVar Variation Id: 647607
• ClinVar RCV Id: RCV000802152 ; RCV001549773

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604346_177604347delinsAC , CM000667.2:g.177604346_177604347delinsAC	GRCh38
NC_000005.9:g.177031347_177031348delinsAC , CM000667.1:g.177031347_177031348delinsAC	GRCh37
NC_000005.8:g.176963953_176963954delinsAC	NCBI36
NG_015977.1:g.9229_9230delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.218_219delinsAC MANE Select	ENSP00000029410.5:p.Arg73His
ENST00000029410.9:c.218_219delinsAC	ENSP00000029410.5:p.Arg73His
ENST00000502420.1:n.197_198delinsAC
ENST00000505433.5:c.218_219delinsAC	ENSP00000425591.1:p.Arg73His
ENST00000505468.1:c.-125_-124delinsAC	ENSP00000420886.1:n.-125_-124delinsAC
ENST00000507061.1:c.35_36delinsAC	ENSP00000423868.1:p.Arg12His
ENST00000510761.1:c.-125_-124delinsAC	ENSP00000423438.1:n.-125_-124delinsAC
NM_007255.2:c.218_219delinsAC	NP_009186.1:p.Arg73His
XM_005265805.2:c.-125_-124delinsAC	XP_005265862.1:n.-125_-124delinsAC
XM_006714816.2:c.-282_-281delinsAC	XP_006714879.1:n.-282_-281delinsAC
XM_011534421.1:c.-125_-124delinsAC	XP_011532723.1:n.-125_-124delinsAC
XM_006714816.4:c.-282_-281delinsAC	XP_006714879.1:n.-282_-281delinsAC
XM_017008999.2:c.-125_-124delinsAC	XP_016864488.1:n.-125_-124delinsAC
NM_007255.3:c.218_219delinsAC MANE Select	NP_009186.1:p.Arg73His