Canonical Allele Identifier: CA2695199607
Gene: DLD HGNC NCBI

Linked Data

ClinVar Variation Id: 2674857
ClinVar RCV Id: RCV003466199

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107917306_107917312dup , CM000669.2:g.107917306_107917312dup GRCh38
NC_000007.13:g.107557751_107557757dup , CM000669.1:g.107557751_107557757dup GRCh37
NC_000007.12:g.107344987_107344993dup NCBI36
NG_008045.1:g.31166_31172dup

Transcript Alleles

HGVS Amino-acid change
ENST00000205402.10:c.1080_1086dup MANE Select ENSP00000205402.3:p.Ala363AsnfsTer9
ENST00000205402.9:c.1080_1086dup ENSP00000205402.3:p.Ala363AsnfsTer9
ENST00000415325.5:c.*754_*760dup ENSP00000402593.1:n.*754_*760dup
ENST00000417551.5:c.1080_1086dup ENSP00000390667.1:p.Ala363AsnfsTer9
ENST00000437604.6:c.936_942dup ENSP00000387542.2:p.Ala315AsnfsTer9
ENST00000440410.5:c.1011_1017dup ENSP00000417016.1:p.Ala340AsnfsTer9
NM_000108.4:c.1080_1086dup NP_000099.2:p.Ala363AsnfsTer9
NM_001289750.1:c.783_789dup NP_001276679.1:p.Ala264AsnfsTer9
NM_001289751.1:c.1011_1017dup NP_001276680.1:p.Ala340AsnfsTer9
NM_001289752.1:c.936_942dup NP_001276681.1:p.Ala315AsnfsTer9
NM_000108.5:c.1080_1086dup MANE Select NP_000099.2:p.Ala363AsnfsTer9