Canonical Allele Identifier: CA2695199609
Gene: DLD HGNC NCBI

Linked Data

ClinVar Variation Id: 2674854
ClinVar RCV Id: RCV003466197

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107917459dup , CM000669.2:g.107917459dup GRCh38
NC_000007.13:g.107557904dup , CM000669.1:g.107557904dup GRCh37
NC_000007.12:g.107345140dup NCBI36
NG_008045.1:g.31319dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000205402.10:c.1233dup MANE Select ENSP00000205402.3:p.Glu412ArgfsTer4
ENST00000205402.9:c.1233dup ENSP00000205402.3:p.Glu412ArgfsTer4
ENST00000415325.5:c.*907dup ENSP00000402593.1:n.*907dup
ENST00000417551.5:c.1233dup ENSP00000390667.1:p.Glu412ArgfsTer4
ENST00000437604.6:c.1089dup ENSP00000387542.2:p.Glu364ArgfsTer4
ENST00000440410.5:c.1164dup ENSP00000417016.1:p.Glu389ArgfsTer4
NM_000108.4:c.1233dup NP_000099.2:p.Glu412ArgfsTer4
NM_001289750.1:c.936dup NP_001276679.1:p.Glu313ArgfsTer4
NM_001289751.1:c.1164dup NP_001276680.1:p.Glu389ArgfsTer4
NM_001289752.1:c.1089dup NP_001276681.1:p.Glu364ArgfsTer4
NM_000108.5:c.1233dup MANE Select NP_000099.2:p.Glu412ArgfsTer4