Canonical Allele Identifier: CA2573139403

Gene: B4GALT7

Linked Data

• ClinVar Variation Id: 1417330
• ClinVar RCV Id: RCV001948116
• dbSNP Id: rs2127511623

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604400_177604401delinsTT , CM000667.2:g.177604400_177604401delinsTT	GRCh38
NC_000005.9:g.177031401_177031402delinsTT , CM000667.1:g.177031401_177031402delinsTT	GRCh37
NC_000005.8:g.176964007_176964008delinsTT	NCBI36
NG_015977.1:g.9283_9284delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000029410.10:c.272_273delinsTT MANE Select	ENSP00000029410.5:p.Gly91Val
ENST00000029410.9:c.272_273delinsTT	ENSP00000029410.5:p.Gly91Val
ENST00000502420.1:n.251_252delinsTT
ENST00000505433.5:c.272_273delinsTT	ENSP00000425591.1:p.Gly91Val
ENST00000505468.1:c.-71_-70delinsTT	ENSP00000420886.1:n.-71_-70delinsTT
ENST00000507061.1:c.89_90delinsTT	ENSP00000423868.1:p.Gly30Val
ENST00000510761.1:c.-71_-70delinsTT	ENSP00000423438.1:n.-71_-70delinsTT
NM_007255.2:c.272_273delinsTT	NP_009186.1:p.Gly91Val
XM_005265805.2:c.-71_-70delinsTT	XP_005265862.1:n.-71_-70delinsTT
XM_006714816.2:c.-228_-227delinsTT	XP_006714879.1:n.-228_-227delinsTT
XM_011534421.1:c.-71_-70delinsTT	XP_011532723.1:n.-71_-70delinsTT
XM_006714816.4:c.-228_-227delinsTT	XP_006714879.1:n.-228_-227delinsTT
XM_017008999.2:c.-71_-70delinsTT	XP_016864488.1:n.-71_-70delinsTT
NM_007255.3:c.272_273delinsTT MANE Select	NP_009186.1:p.Gly91Val