Canonical Allele Identifier: CA2580074078

Gene: B4GALT7

Linked Data

• ClinVar Variation Id: 2129648
• ClinVar RCV Id: RCV003891409

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604307_177604895del , CM000667.2:g.177604307_177604895del	GRCh38
NC_000005.9:g.177031308_177031896del , CM000667.1:g.177031308_177031896del	GRCh37
NC_000005.8:g.176963914_176964502del	NCBI36
NG_015977.1:g.9190_9778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.179_413+354del
ENST00000029410.9:c.179_413+354del
ENST00000502420.1:n.158_392+354del
ENST00000505433.5:c.179_413+354del
ENST00000505468.1:c.-164_71+354del
ENST00000510761.1:c.-164_71+354del
NM_007255.2:c.179_413+354del
XM_005265805.2:c.-164_71+354del
XM_006714816.2:c.-321_-87+354del
XM_011534421.1:c.-164_71+354del
XM_006714816.4:c.-321_-87+354del
XM_017008999.2:c.-164_71+354del
NM_007255.3:c.179_413+354del