Canonical Allele Identifier: CA2578990182
Gene: DLD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107916964del , CM000669.2:g.107916964del GRCh38
NC_000007.13:g.107557409del , CM000669.1:g.107557409del GRCh37
NC_000007.12:g.107344645del NCBI36
NG_008045.1:g.30824del

Transcript Alleles

HGVS Amino-acid Change
ENST00000205402.10:c.1046del MANE Select ENSP00000205402.3:p.Asn349IlefsTer8
ENST00000205402.9:c.1046del ENSP00000205402.3:p.Asn349IlefsTer8
ENST00000415325.5:c.*720del ENSP00000402593.1:n.*720del
ENST00000417551.5:c.1046del ENSP00000390667.1:p.Asn349IlefsTer8
ENST00000437604.6:c.902del ENSP00000387542.2:p.Asn301IlefsTer8
ENST00000440410.5:c.977del ENSP00000417016.1:p.Asn326IlefsTer8
NM_000108.4:c.1046del NP_000099.2:p.Asn349IlefsTer8
NM_001289750.1:c.749del NP_001276679.1:p.Asn250IlefsTer8
NM_001289751.1:c.977del NP_001276680.1:p.Asn326IlefsTer8
NM_001289752.1:c.902del NP_001276681.1:p.Asn301IlefsTer8
NM_000108.5:c.1046del MANE Select NP_000099.2:p.Asn349IlefsTer8