Canonical Allele Identifier: CA16041122
Gene: DLD HGNC NCBI

Linked Data

ClinVar Variation Id: 371362
ClinVar RCV Id: RCV000410633
dbSNP Id: rs1057517214

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107902349dup , CM000669.2:g.107902349dup GRCh38
NC_000007.13:g.107542794dup , CM000669.1:g.107542794dup GRCh37
NC_000007.12:g.107330030dup NCBI36
NG_008045.1:g.16209dup

Transcript Alleles

HGVS Amino-acid change
ENST00000205402.10:c.223dup MANE Select ENSP00000205402.3:p.Thr75AsnfsTer15
ENST00000639772.1:c.223dup ENSP00000492159.1:p.Thr75AsnfsTer15
ENST00000205402.9:c.223dup ENSP00000205402.3:p.Thr75AsnfsTer15
ENST00000415325.5:c.119-1129dup ENSP00000402593.1:n.119-1129dup
ENST00000417551.5:c.223dup ENSP00000390667.1:p.Thr75AsnfsTer15
ENST00000437604.6:c.223dup ENSP00000387542.2:p.Thr75AsnfsTer15
ENST00000440410.5:c.198+532dup ENSP00000417016.1:n.198+532dup
ENST00000450038.5:c.223dup ENSP00000409590.1:p.Thr75AsnfsTer15
ENST00000451081.5:c.223dup ENSP00000388077.1:p.Thr75AsnfsTer15
ENST00000453354.5:n.288dup
ENST00000460577.5:n.257dup
ENST00000494441.1:n.368dup
NM_000108.4:c.223dup NP_000099.2:p.Thr75AsnfsTer15
NM_001289750.1:c.-30-1129dup NP_001276679.1:n.-30-1129dup
NM_001289751.1:c.198+532dup NP_001276680.1:n.198+532dup
NM_001289752.1:c.223dup NP_001276681.1:p.Thr75AsnfsTer15
NM_000108.5:c.223dup MANE Select NP_000099.2:p.Thr75AsnfsTer15