Canonical Allele Identifier: CA2580076207

Gene: DLD

Linked Data

• ClinVar Variation Id: 2057359
• ClinVar RCV Id: RCV002923317

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107917342_107917343del , CM000669.2:g.107917342_107917343del	GRCh38
NC_000007.13:g.107557787_107557788del , CM000669.1:g.107557787_107557788del	GRCh37
NC_000007.12:g.107345023_107345024del	NCBI36
NG_008045.1:g.31202_31203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.1116_1117del MANE Select	ENSP00000205402.3:p.Ile372MetfsTer3
ENST00000205402.9:c.1116_1117del	ENSP00000205402.3:p.Ile372MetfsTer3
ENST00000415325.5:c.*790_*791del	ENSP00000402593.1:n.*790_*791del
ENST00000417551.5:c.1116_1117del	ENSP00000390667.1:p.Ile372MetfsTer3
ENST00000437604.6:c.972_973del	ENSP00000387542.2:p.Ile324MetfsTer3
ENST00000440410.5:c.1047_1048del	ENSP00000417016.1:p.Ile349MetfsTer3
NM_000108.4:c.1116_1117del	NP_000099.2:p.Ile372MetfsTer3
NM_001289750.1:c.819_820del	NP_001276679.1:p.Ile273MetfsTer3
NM_001289751.1:c.1047_1048del	NP_001276680.1:p.Ile349MetfsTer3
NM_001289752.1:c.972_973del	NP_001276681.1:p.Ile324MetfsTer3
NM_000108.5:c.1116_1117del MANE Select	NP_000099.2:p.Ile372MetfsTer3