Canonical Allele Identifier: CA2580076208
Gene: DLD HGNC NCBI

Linked Data

ClinVar Variation Id: 2113162
ClinVar RCV Id: RCV003027178

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107917365del , CM000669.2:g.107917365del GRCh38
NC_000007.13:g.107557810del , CM000669.1:g.107557810del GRCh37
NC_000007.12:g.107345046del NCBI36
NG_008045.1:g.31225del

Transcript Alleles

HGVS Amino-acid Change
ENST00000205402.10:c.1139del MANE Select ENSP00000205402.3:p.Gly380ValfsTer13
ENST00000205402.9:c.1139del ENSP00000205402.3:p.Gly380ValfsTer13
ENST00000415325.5:c.*813del ENSP00000402593.1:n.*813del
ENST00000417551.5:c.1139del ENSP00000390667.1:p.Gly380ValfsTer13
ENST00000437604.6:c.995del ENSP00000387542.2:p.Gly332ValfsTer13
ENST00000440410.5:c.1070del ENSP00000417016.1:p.Gly357ValfsTer13
NM_000108.4:c.1139del NP_000099.2:p.Gly380ValfsTer13
NM_001289750.1:c.842del NP_001276679.1:p.Gly281ValfsTer13
NM_001289751.1:c.1070del NP_001276680.1:p.Gly357ValfsTer13
NM_001289752.1:c.995del NP_001276681.1:p.Gly332ValfsTer13
NM_000108.5:c.1139del MANE Select NP_000099.2:p.Gly380ValfsTer13