Canonical Allele Identifier: CA1105644876

Gene: DLD

Linked Data

• dbSNP Id: rs2032292630
• gnomAD v3: 7-107917292-G-GTAGT
• gnomAD v4: 7-107917292-G-GTAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107917294_107917297dup , CM000669.2:g.107917294_107917297dup	GRCh38
NC_000007.13:g.107557739_107557742dup , CM000669.1:g.107557739_107557742dup	GRCh37
NC_000007.12:g.107344975_107344978dup	NCBI36
NG_008045.1:g.31154_31157dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.1068_1071dup MANE Select	ENSP00000205402.3:p.Ala358SerfsTer13
ENST00000205402.9:c.1068_1071dup	ENSP00000205402.3:p.Ala358SerfsTer13
ENST00000415325.5:c.*742_*745dup	ENSP00000402593.1:n.*742_*745dup
ENST00000417551.5:c.1068_1071dup	ENSP00000390667.1:p.Ala358SerfsTer13
ENST00000437604.6:c.924_927dup	ENSP00000387542.2:p.Ala310SerfsTer13
ENST00000440410.5:c.999_1002dup	ENSP00000417016.1:p.Ala335SerfsTer13
NM_000108.4:c.1068_1071dup	NP_000099.2:p.Ala358SerfsTer13
NM_001289750.1:c.771_774dup	NP_001276679.1:p.Ala259SerfsTer13
NM_001289751.1:c.999_1002dup	NP_001276680.1:p.Ala335SerfsTer13
NM_001289752.1:c.924_927dup	NP_001276681.1:p.Ala310SerfsTer13
NM_000108.5:c.1068_1071dup MANE Select	NP_000099.2:p.Ala358SerfsTer13