Canonical Allele Identifier: CA658821777

Gene: DLD

Linked Data

• ClinVar Variation Id: 554494
• ClinVar RCV Id: RCV000670137
• dbSNP Id: rs1554400704
• MyVariant Identifiers: chr7:g.107919064_107919067del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107919064_107919067del , CM000669.2:g.107919064_107919067del	GRCh38
NC_000007.13:g.107559509_107559512del , CM000669.1:g.107559509_107559512del	GRCh37
NC_000007.12:g.107346745_107346748del	NCBI36
NG_008045.1:g.32924_32927del

Transcript Alleles

HGVS	Amino-acid change
ENST00000205402.10:c.1429_1432del MANE Select	ENSP00000205402.3:p.Cys477LysfsTer3
ENST00000205402.9:c.1429_1432del	ENSP00000205402.3:p.Cys477LysfsTer3
ENST00000415325.5:c.*1103_*1106del	ENSP00000402593.1:n.*1103_*1106del
ENST00000417551.5:c.1429_1432del	ENSP00000390667.1:p.Cys477LysfsTer3
ENST00000437604.6:c.1285_1288del	ENSP00000387542.2:p.Cys429LysfsTer3
ENST00000440410.5:c.1360_1363del	ENSP00000417016.1:p.Cys454LysfsTer3
NM_000108.4:c.1429_1432del	NP_000099.2:p.Cys477LysfsTer3
NM_001289750.1:c.1132_1135del	NP_001276679.1:p.Cys378LysfsTer3
NM_001289751.1:c.1360_1363del	NP_001276680.1:p.Cys454LysfsTer3
NM_001289752.1:c.1285_1288del	NP_001276681.1:p.Cys429LysfsTer3
NM_000108.5:c.1429_1432del MANE Select	NP_000099.2:p.Cys477LysfsTer3