Canonical Allele Identifier: CA2499218653
Gene: DLD HGNC NCBI

Linked Data

ClinVar Variation Id: 1154101
ClinVar RCV Id: RCV001495987
dbSNP Id: rs2116271424

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107917266_107917269del , CM000669.2:g.107917266_107917269del GRCh38
NC_000007.13:g.107557711_107557714del , CM000669.1:g.107557711_107557714del GRCh37
NC_000007.12:g.107344947_107344950del NCBI36
NG_008045.1:g.31126_31129del

Transcript Alleles

HGVS Amino-acid Change
ENST00000205402.10:c.1047-7_1047-4del MANE Select ENSP00000205402.3:n.1047-7_1047-4del
ENST00000205402.9:c.1047-7_1047-4del ENSP00000205402.3:n.1047-7_1047-4del
ENST00000415325.5:c.*721-7_*721-4del ENSP00000402593.1:n.*721-7_*721-4del
ENST00000417551.5:c.1047-7_1047-4del ENSP00000390667.1:n.1047-7_1047-4del
ENST00000437604.6:c.903-7_903-4del ENSP00000387542.2:n.903-7_903-4del
ENST00000440410.5:c.978-7_978-4del ENSP00000417016.1:n.978-7_978-4del
NM_000108.4:c.1047-7_1047-4del NP_000099.2:n.1047-7_1047-4del
NM_001289750.1:c.750-7_750-4del NP_001276679.1:n.750-7_750-4del
NM_001289751.1:c.978-7_978-4del NP_001276680.1:n.978-7_978-4del
NM_001289752.1:c.903-7_903-4del NP_001276681.1:n.903-7_903-4del
NM_000108.5:c.1047-7_1047-4del MANE Select NP_000099.2:n.1047-7_1047-4del