Canonical Allele Identifier: CA577199130

Gene: DLD

Linked Data

• ClinVar Variation Id: 557852
• ClinVar RCV Id: RCV000674045
• dbSNP Id: rs1554400179
• gnomAD v2: 7-107556126-G-GA
• MyVariant Identifiers: chr7:g.107556126_107556127insA (hg19) ; chr7:g.107915686dup (hg38) ; chr7:g.107915681_107915682insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107915686dup , CM000669.2:g.107915686dup	GRCh38
NC_000007.13:g.107556131dup , CM000669.1:g.107556131dup	GRCh37
NC_000007.12:g.107343367dup	NCBI36
NG_008045.1:g.29546dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205402.10:c.865dup MANE Select	ENSP00000205402.3:p.Ile289AsnfsTer2
ENST00000205402.9:c.865dup	ENSP00000205402.3:p.Ile289AsnfsTer2
ENST00000415325.5:c.*539dup	ENSP00000402593.1:n.*539dup
ENST00000417551.5:c.865dup	ENSP00000390667.1:p.Ile289AsnfsTer2
ENST00000437604.6:c.721dup	ENSP00000387542.2:p.Ile241AsnfsTer2
ENST00000440410.5:c.796dup	ENSP00000417016.1:p.Ile266AsnfsTer2
NM_000108.4:c.865dup	NP_000099.2:p.Ile289AsnfsTer2
NM_001289750.1:c.568dup	NP_001276679.1:p.Ile190AsnfsTer2
NM_001289751.1:c.796dup	NP_001276680.1:p.Ile266AsnfsTer2
NM_001289752.1:c.721dup	NP_001276681.1:p.Ile241AsnfsTer2
NM_000108.5:c.865dup MANE Select	NP_000099.2:p.Ile289AsnfsTer2