Canonical Allele Identifier: CA4434595
Gene: DLD HGNC NCBI

Linked Data

dbSNP Id: rs750641443
ExAC: 7:107557305 C / CCGACGACCCTTTACTAAGAATTTGGG
gnomAD v2: 7-107557305-C-CCGACGACCCTTTACTAAGAATTTGGG
gnomAD v3: 7-107916860-C-CCGACGACCCTTTACTAAGAATTTGGG
gnomAD v4: 7-107916860-C-CCGACGACCCTTTACTAAGAATTTGGG
MyVariant Identifiers: chr7:g.107557305_107557306insCGACGACCCTTTACTAAGAATTTGGG (hg19) chr7:g.107916860_107916861insCGACGACCCTTTACTAAGAATTTGGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107916861_107916886dup , CM000669.2:g.107916861_107916886dup GRCh38
NC_000007.13:g.107557306_107557331dup , CM000669.1:g.107557306_107557331dup GRCh37
NC_000007.12:g.107344542_107344567dup NCBI36
NG_008045.1:g.30721_30746dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000205402.10:c.943_968dup MANE Select ENSP00000205402.3:p.Leu324AspfsTer10
ENST00000205402.9:c.943_968dup ENSP00000205402.3:p.Leu324AspfsTer10
ENST00000415325.5:c.*617_*642dup ENSP00000402593.1:n.*617_*642dup
ENST00000417551.5:c.943_968dup ENSP00000390667.1:p.Leu324AspfsTer10
ENST00000437604.6:c.799_824dup ENSP00000387542.2:p.Leu276AspfsTer10
ENST00000440410.5:c.874_899dup ENSP00000417016.1:p.Leu301AspfsTer10
NM_000108.4:c.943_968dup NP_000099.2:p.Leu324AspfsTer10
NM_001289750.1:c.646_671dup NP_001276679.1:p.Leu225AspfsTer10
NM_001289751.1:c.874_899dup NP_001276680.1:p.Leu301AspfsTer10
NM_001289752.1:c.799_824dup NP_001276681.1:p.Leu276AspfsTer10
NM_000108.5:c.943_968dup MANE Select NP_000099.2:p.Leu324AspfsTer10
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