Canonical Allele Identifier: CA2580076203

Gene: DLD

Linked Data

• ClinVar Variation Id: 2028124
• ClinVar RCV Id: RCV002863441

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107916905dup , CM000669.2:g.107916905dup	GRCh38
NC_000007.13:g.107557350dup , CM000669.1:g.107557350dup	GRCh37
NC_000007.12:g.107344586dup	NCBI36
NG_008045.1:g.30765dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.987dup MANE Select	ENSP00000205402.3:p.Glu330Ter
ENST00000205402.9:c.987dup	ENSP00000205402.3:p.Glu330Ter
ENST00000415325.5:c.*661dup	ENSP00000402593.1:n.*661dup
ENST00000417551.5:c.987dup	ENSP00000390667.1:p.Glu330Ter
ENST00000437604.6:c.843dup	ENSP00000387542.2:p.Glu282Ter
ENST00000440410.5:c.918dup	ENSP00000417016.1:p.Glu307Ter
NM_000108.4:c.987dup	NP_000099.2:p.Glu330Ter
NM_001289750.1:c.690dup	NP_001276679.1:p.Glu231Ter
NM_001289751.1:c.918dup	NP_001276680.1:p.Glu307Ter
NM_001289752.1:c.843dup	NP_001276681.1:p.Glu282Ter
NM_000108.5:c.987dup MANE Select	NP_000099.2:p.Glu330Ter