{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16040808",
  "communityStandardTitle": [
    "NM_000110.4(DPYD):c.1316del (p.Gly439ValfsTer4)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357171[alleleid]",
        "alleleId": 357171,
        "preferredName": "NM_000110.4(DPYD):c.1316del (p.Gly439fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370780",
        "RCV": [
          "RCV000411796"
        ],
        "variationId": 370780
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.98039339del?assembly=hg19",
        "id": "chr1:g.98039339del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.97573783del?assembly=hg38",
        "id": "chr1:g.97573783del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516761",
        "rs": 1057516761
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 97573784,
          "referenceAllele": "C",
          "start": 97573783
        }
      ],
      "hgvs": [
        "NC_000001.11:g.97573784del",
        "CM000663.2:g.97573784del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 98039340,
          "referenceAllele": "C",
          "start": 98039339
        }
      ],
      "hgvs": [
        "NC_000001.10:g.98039340del",
        "CM000663.1:g.98039340del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 97811928,
          "referenceAllele": "C",
          "start": 97811927
        }
      ],
      "hgvs": [
        "NC_000001.9:g.97811928del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 352277,
          "referenceAllele": "G",
          "start": 352276
        }
      ],
      "hgvs": [
        "NG_008807.2:g.352277del",
        "LRG_722:g.352277del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001226"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1428,
          "referenceAllele": "G",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "ENST00000370192.8:c.1316del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359211.3:p.Gly439ValfsTer4",
        "hgvsWellDefined": "ENSP00000359211.3:p.[Gly439_Ser440del;Leu442_Lys455delinsGln;Asn457_Thr468del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750558",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370192.8:c.1316del"
          },
          "RefSeq": {
            "hgvs": "NM_000110.4:c.1316del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359211.3:p.Gly439ValfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_000101.2:p.Gly439ValfsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1417,
          "referenceAllele": "G",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "ENST00000370192.7:c.1316del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359211.3:p.Gly439ValfsTer4",
        "hgvsWellDefined": "ENSP00000359211.3:p.[Gly439_Ser440del;Leu442_Lys455delinsGln;Asn457_Thr468del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267925"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1453,
          "referenceAllele": "G",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "NM_000110.3:c.1316del",
        "LRG_722t1:c.1316del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000101.2:p.Gly439ValfsTer4",
        "hgvsWellDefined": "NP_000101.2:p.[Gly439_Ser440del;Leu442_Lys455delinsGln;Asn457_Thr468del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006173"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1453,
          "referenceAllele": "G",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_005270562.3:c.1316del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270619.2:p.Gly439ValfsTer4",
        "hgvsWellDefined": "XP_005270619.2:p.[Gly439_Ser440del;Leu442_Lys455delinsGln;Asn457_Thr468del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066568"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1453,
          "referenceAllele": "G",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_006710397.2:c.1316del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710460.1:p.Gly439ValfsTer4",
        "hgvsWellDefined": "XP_006710460.1:p.[Gly439_Ser440del;Leu442_Lys455delinsGln;Asn457_Thr468del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068587"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1453,
          "referenceAllele": "G",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_006710397.3:c.1316del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710460.1:p.Gly439ValfsTer4",
        "hgvsWellDefined": "XP_006710460.1:p.[Gly439_Ser440del;Leu442_Lys455delinsGln;Asn457_Thr468del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537767"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1336,
          "referenceAllele": "G",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000507.1:c.1205del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855996.1:p.Gly402ValfsTer4",
        "hgvsWellDefined": "XP_016855996.1:p.[Gly402_Ser403del;Leu405_Lys418delinsGln;Asn420_Thr431del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556868"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1606,
          "referenceAllele": "G",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000508.2:c.821del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855997.1:p.Gly274ValfsTer4",
        "hgvsWellDefined": "XP_016855997.1:p.[Gly274_Ser275del;Leu277_Lys290delinsGln;Asn292_Thr303del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556869"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1505,
          "referenceAllele": "G",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000509.2:c.821del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855998.1:p.Gly274ValfsTer4",
        "hgvsWellDefined": "XP_016855998.1:p.[Gly274_Ser275del;Leu277_Lys290delinsGln;Asn292_Thr303del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556870"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1450,
          "referenceAllele": "G",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000510.1:c.821del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855999.1:p.Gly274ValfsTer4",
        "hgvsWellDefined": "XP_016855999.1:p.[Gly274_Ser275del;Leu277_Lys290delinsGln;Asn292_Thr303del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556871"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1428,
          "referenceAllele": "G",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "NM_000110.4:c.1316del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000101.2:p.Gly439ValfsTer4",
        "hgvsWellDefined": "NP_000101.2:p.[Gly439_Ser440del;Leu442_Lys455delinsGln;Asn457_Thr468del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674705",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370192.8:c.1316del"
          },
          "RefSeq": {
            "hgvs": "NM_000110.4:c.1316del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359211.3:p.Gly439ValfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_000101.2:p.Gly439ValfsTer4"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}