Canonical Allele Identifier: CA2580617077
Gene: DLD HGNC NCBI

Linked Data

ClinVar Variation Id: 1726989
ClinVar RCV Id: RCV002308464

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107917413_107917414del , CM000669.2:g.107917413_107917414del GRCh38
NC_000007.13:g.107557858_107557859del , CM000669.1:g.107557858_107557859del GRCh37
NC_000007.12:g.107345094_107345095del NCBI36
NG_008045.1:g.31273_31274del

Transcript Alleles

HGVS Amino-acid change
ENST00000205402.10:c.1187_1188del MANE Select ENSP00000205402.3:p.His396ProfsTer2
ENST00000205402.9:c.1187_1188del ENSP00000205402.3:p.His396ProfsTer2
ENST00000415325.5:c.*861_*862del ENSP00000402593.1:n.*861_*862del
ENST00000417551.5:c.1187_1188del ENSP00000390667.1:p.His396ProfsTer2
ENST00000437604.6:c.1043_1044del ENSP00000387542.2:p.His348ProfsTer2
ENST00000440410.5:c.1118_1119del ENSP00000417016.1:p.His373ProfsTer2
NM_000108.4:c.1187_1188del NP_000099.2:p.His396ProfsTer2
NM_001289750.1:c.890_891del NP_001276679.1:p.His297ProfsTer2
NM_001289751.1:c.1118_1119del NP_001276680.1:p.His373ProfsTer2
NM_001289752.1:c.1043_1044del NP_001276681.1:p.His348ProfsTer2
NM_000108.5:c.1187_1188del MANE Select NP_000099.2:p.His396ProfsTer2