Canonical Allele Identifier: CA16618189
Gene: B4GALT7 HGNC NCBI

Linked Data

ClinVar Variation Id: 423889
ClinVar RCV Id: RCV000485451
dbSNP Id: rs1064796683

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177604396del , CM000667.2:g.177604396del GRCh38
NC_000005.9:g.177031397del , CM000667.1:g.177031397del GRCh37
NC_000005.8:g.176964003del NCBI36
NG_015977.1:g.9279del

Transcript Alleles

HGVS Amino-acid change
ENST00000029410.10:c.268del MANE Select ENSP00000029410.5:p.Trp90GlyfsTer30
ENST00000029410.9:c.268del ENSP00000029410.5:p.Trp90GlyfsTer30
ENST00000502420.1:n.247del
ENST00000505433.5:c.268del ENSP00000425591.1:p.Trp90GlyfsTer30
ENST00000505468.1:c.-75del ENSP00000420886.1:n.-75del
ENST00000507061.1:c.85del ENSP00000423868.1:p.Trp29GlyfsTer30
ENST00000510761.1:c.-75del ENSP00000423438.1:n.-75del
NM_007255.2:c.268del NP_009186.1:p.Trp90GlyfsTer30
XM_005265805.2:c.-75del XP_005265862.1:n.-75del
XM_006714816.2:c.-232del XP_006714879.1:n.-232del
XM_011534421.1:c.-75del XP_011532723.1:n.-75del
XM_006714816.4:c.-232del XP_006714879.1:n.-232del
XM_017008999.2:c.-75del XP_016864488.1:n.-75del
NM_007255.3:c.268del MANE Select NP_009186.1:p.Trp90GlyfsTer30