Canonical Allele Identifier: CA4434736
Gene: DLD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371542
ClinVar RCV Id: RCV000411445

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107919249_107919252del , CM000669.2:g.107919249_107919252del GRCh38
NC_000007.12:g.107346930_107346933del NCBI36
NC_000007.13:g.107559694_107559697del , CM000669.1:g.107559694_107559697del GRCh37
NG_008045.1:g.33109_33112del

Transcript Alleles

HGVS Amino-acid change
ENST00000205402.9:c.1520_1523del ENSP00000205402.3:p.Ile507ThrfsTer?
ENST00000415325.5:c.*1194_*1197del ENSP00000402593.1:p.=
ENST00000417551.5:c.1520_1523del ENSP00000390667.1:p.Ile507ThrfsTer?
ENST00000437604.6:c.1376_1379del ENSP00000387542.2:p.Ile459ThrfsTer?
ENST00000440410.5:c.1451_1454del ENSP00000417016.1:p.Ile484ThrfsTer?
NM_000108.4:c.1520_1523del VV NP_000099.2:p.Ile507ThrfsTer?
NM_001289750.1:c.1223_1226del VV NP_001276679.1:p.Ile408ThrfsTer?
NM_001289751.1:c.1451_1454del VV NP_001276680.1:p.Ile484ThrfsTer?
NM_001289752.1:c.1376_1379del VV NP_001276681.1:p.Ile459ThrfsTer?