{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16040801",
  "communityStandardTitle": [
    "NM_000110.4(DPYD):c.1831G>T (p.Glu611Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357162[alleleid]",
        "alleleId": 357162,
        "preferredName": "NM_000110.4(DPYD):c.1831G>T (p.Glu611Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370668",
        "RCV": [
          "RCV000410030"
        ],
        "variationId": 370668
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.97915689C>A?assembly=hg19",
        "id": "chr1:g.97915689C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.97450133C>A?assembly=hg38",
        "id": "chr1:g.97450133C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516671",
        "rs": 1057516671
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-97450133-C-A?dataset=gnomad_r4",
        "id": "1-97450133-C-A",
        "variant": "1:97450133 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 97450133,
          "referenceAllele": "C",
          "start": 97450132
        }
      ],
      "hgvs": [
        "NC_000001.11:g.97450133C>A",
        "CM000663.2:g.97450133C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 97915689,
          "referenceAllele": "C",
          "start": 97915688
        }
      ],
      "hgvs": [
        "NC_000001.10:g.97915689C>A",
        "CM000663.1:g.97915689C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 97688277,
          "referenceAllele": "C",
          "start": 97688276
        }
      ],
      "hgvs": [
        "NC_000001.9:g.97688277C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 475927,
          "referenceAllele": "G",
          "start": 475926
        }
      ],
      "hgvs": [
        "NG_008807.2:g.475927G>T",
        "LRG_722:g.475927G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001226"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1943,
          "referenceAllele": "G",
          "start": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "ENST00000370192.8:c.1831G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359211.3:p.Glu611Ter",
        "hgvsWellDefined": "ENSP00000359211.3:p.Glu611_Cys1025delinsLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysLysLeuProSerPheGlyProTyrLeuGluGlnArgLysLysIleIleAlaGluAsnLysIleArgLeuLysGluGlnAsnValAlaPheSerProLeuLysArgAsnCysPheIleProLysArgProIleProThrIleLysAspValIleGlyLysAlaLeuGlnTyrLeuGlyThrPheGlyGluLeuSerAsnValGluGlnValValAlaMetIleAspGluGluMetCysIleAsnCysGlyLysCysTyrMetThrCysAsnAspSerGlyTyrGlnAlaIleGlnPheAspProGluThrHisLeuProThrIleThrAspThrCysThrGlyCysThrLeuCysLeuSerValCysProIleValAspCysIleLysMetValSerArgThrThrProTyrGluProLysArgGlyValProLeuSerValAsnProValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750558",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370192.8:c.1831G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000110.4:c.1831G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359211.3:p.Glu611Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000101.2:p.Glu611Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1932,
          "referenceAllele": "G",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "ENST00000370192.7:c.1831G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359211.3:p.Glu611Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267925"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645486268",
      "coordinates": [
        {
          "allele": "T",
          "end": 1968,
          "referenceAllele": "G",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "NM_000110.3:c.1831G>T",
        "LRG_722t1:c.1831G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000101.2:p.Glu611Ter",
        "hgvsWellDefined": "NP_000101.2:p.Glu611_Cys1025delinsLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysLysLeuProSerPheGlyProTyrLeuGluGlnArgLysLysIleIleAlaGluAsnLysIleArgLeuLysGluGlnAsnValAlaPheSerProLeuLysArgAsnCysPheIleProLysArgProIleProThrIleLysAspValIleGlyLysAlaLeuGlnTyrLeuGlyThrPheGlyGluLeuSerAsnValGluGlnValValAlaMetIleAspGluGluMetCysIleAsnCysGlyLysCysTyrMetThrCysAsnAspSerGlyTyrGlnAlaIleGlnPheAspProGluThrHisLeuProThrIleThrAspThrCysThrGlyCysThrLeuCysLeuSerValCysProIleValAspCysIleLysMetValSerArgThrThrProTyrGluProLysArgGlyValProLeuSerValAsnProValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1752,
          "referenceAllele": "G",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_005270562.3:c.1615G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270619.2:p.Glu539Ter",
        "hgvsWellDefined": "XP_005270619.2:p.Glu539_Cys953delinsLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysLysLeuProSerPheGlyProTyrLeuGluGlnArgLysLysIleIleAlaGluAsnLysIleArgLeuLysGluGlnAsnValAlaPheSerProLeuLysArgAsnCysPheIleProLysArgProIleProThrIleLysAspValIleGlyLysAlaLeuGlnTyrLeuGlyThrPheGlyGluLeuSerAsnValGluGlnValValAlaMetIleAspGluGluMetCysIleAsnCysGlyLysCysTyrMetThrCysAsnAspSerGlyTyrGlnAlaIleGlnPheAspProGluThrHisLeuProThrIleThrAspThrCysThrGlyCysThrLeuCysLeuSerValCysProIleValAspCysIleLysMetValSerArgThrThrProTyrGluProLysArgGlyValProLeuSerValAsnProValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1968,
          "referenceAllele": "G",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_006710397.2:c.1831G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710460.1:p.Glu611Ter",
        "hgvsWellDefined": "XP_006710460.1:p.Glu611_Phe889delinsLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysGluThrGlnCysLeuLeuAspValIleSerSerValAspSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1968,
          "referenceAllele": "G",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_006710397.3:c.1831G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710460.1:p.Glu611Ter",
        "hgvsWellDefined": "XP_006710460.1:p.Glu611_Phe889delinsLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysGluThrGlnCysLeuLeuAspValIleSerSerValAspSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1851,
          "referenceAllele": "G",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000507.1:c.1720G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855996.1:p.Glu574Ter",
        "hgvsWellDefined": "XP_016855996.1:p.Glu574_Cys988delinsLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysLysLeuProSerPheGlyProTyrLeuGluGlnArgLysLysIleIleAlaGluAsnLysIleArgLeuLysGluGlnAsnValAlaPheSerProLeuLysArgAsnCysPheIleProLysArgProIleProThrIleLysAspValIleGlyLysAlaLeuGlnTyrLeuGlyThrPheGlyGluLeuSerAsnValGluGlnValValAlaMetIleAspGluGluMetCysIleAsnCysGlyLysCysTyrMetThrCysAsnAspSerGlyTyrGlnAlaIleGlnPheAspProGluThrHisLeuProThrIleThrAspThrCysThrGlyCysThrLeuCysLeuSerValCysProIleValAspCysIleLysMetValSerArgThrThrProTyrGluProLysArgGlyValProLeuSerValAsnProValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2121,
          "referenceAllele": "G",
          "start": 2120
        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016855997.1:p.Glu446_Cys860delinsLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysLysLeuProSerPheGlyProTyrLeuGluGlnArgLysLysIleIleAlaGluAsnLysIleArgLeuLysGluGlnAsnValAlaPheSerProLeuLysArgAsnCysPheIleProLysArgProIleProThrIleLysAspValIleGlyLysAlaLeuGlnTyrLeuGlyThrPheGlyGluLeuSerAsnValGluGlnValValAlaMetIleAspGluGluMetCysIleAsnCysGlyLysCysTyrMetThrCysAsnAspSerGlyTyrGlnAlaIleGlnPheAspProGluThrHisLeuProThrIleThrAspThrCysThrGlyCysThrLeuCysLeuSerValCysProIleValAspCysIleLysMetValSerArgThrThrProTyrGluProLysArgGlyValProLeuSerValAsnProValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2020,
          "referenceAllele": "G",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000509.2:c.1336G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855998.1:p.Glu446Ter",
        "hgvsWellDefined": "XP_016855998.1:p.Glu446_Cys860delinsLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysLysLeuProSerPheGlyProTyrLeuGluGlnArgLysLysIleIleAlaGluAsnLysIleArgLeuLysGluGlnAsnValAlaPheSerProLeuLysArgAsnCysPheIleProLysArgProIleProThrIleLysAspValIleGlyLysAlaLeuGlnTyrLeuGlyThrPheGlyGluLeuSerAsnValGluGlnValValAlaMetIleAspGluGluMetCysIleAsnCysGlyLysCysTyrMetThrCysAsnAspSerGlyTyrGlnAlaIleGlnPheAspProGluThrHisLeuProThrIleThrAspThrCysThrGlyCysThrLeuCysLeuSerValCysProIleValAspCysIleLysMetValSerArgThrThrProTyrGluProLysArgGlyValProLeuSerValAsnProValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1965,
          "referenceAllele": "G",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000510.1:c.1336G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855999.1:p.Glu446Ter",
        "hgvsWellDefined": "XP_016855999.1:p.Glu446_Cys860delinsLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysLysLeuProSerPheGlyProTyrLeuGluGlnArgLysLysIleIleAlaGluAsnLysIleArgLeuLysGluGlnAsnValAlaPheSerProLeuLysArgAsnCysPheIleProLysArgProIleProThrIleLysAspValIleGlyLysAlaLeuGlnTyrLeuGlyThrPheGlyGluLeuSerAsnValGluGlnValValAlaMetIleAspGluGluMetCysIleAsnCysGlyLysCysTyrMetThrCysAsnAspSerGlyTyrGlnAlaIleGlnPheAspProGluThrHisLeuProThrIleThrAspThrCysThrGlyCysThrLeuCysLeuSerValCysProIleValAspCysIleLysMetValSerArgThrThrProTyrGluProLysArgGlyValProLeuSerValAsnProValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645486268",
      "coordinates": [
        {
          "allele": "T",
          "end": 1943,
          "referenceAllele": "G",
          "start": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "NM_000110.4:c.1831G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000101.2:p.Glu611Ter",
        "hgvsWellDefined": "NP_000101.2:p.Glu611_Cys1025delinsLeuIleSerGluLysThrAlaAlaTyrTrpCysGlnSerValThrGluLeuLysAlaAspPheProAspAsnIleValIleAlaSerIleMetCysSerTyrAsnLysAsnAspTrpThrGluLeuAlaLysLysSerGluAspSerGlyAlaAspAlaLeuGluLeuAsnLeuSerCysProHisGlyMetGlyGluArgGlyMetGlyLeuAlaCysGlyGlnAspProGluLeuValArgAsnIleCysArgTrpValArgGlnAlaValGlnIleProPhePheAlaLysLeuThrProAsnValThrAspIleValSerIleAlaArgAlaAlaLysGluGlyGlyAlaAsnGlyValThrAlaThrAsnThrValSerGlyLeuMetGlyLeuLysSerAspGlyThrProTrpProAlaValGlyIleAlaLysArgThrThrTyrGlyGlyValSerGlyThrAlaIleArgProIleAlaLeuArgAlaValThrSerIleAlaArgAlaLeuProGlyPheProIleLeuAlaThrGlyGlyIleAspSerAlaGluSerGlyLeuGlnPheLeuHisSerGlyAlaSerValLeuGlnValCysSerAlaIleGlnAsnGlnAspPheThrValIleGluAspTyrCysThrGlyLeuLysAlaLeuLeuTyrLeuLysSerIleGluGluLeuGlnAspTrpAspGlyGlnSerProAlaThrValSerHisGlnLysGlyLysProValProArgIleAlaGluLeuMetAspLysLysLeuProSerPheGlyProTyrLeuGluGlnArgLysLysIleIleAlaGluAsnLysIleArgLeuLysGluGlnAsnValAlaPheSerProLeuLysArgAsnCysPheIleProLysArgProIleProThrIleLysAspValIleGlyLysAlaLeuGlnTyrLeuGlyThrPheGlyGluLeuSerAsnValGluGlnValValAlaMetIleAspGluGluMetCysIleAsnCysGlyLysCysTyrMetThrCysAsnAspSerGlyTyrGlnAlaIleGlnPheAspProGluThrHisLeuProThrIleThrAspThrCysThrGlyCysThrLeuCysLeuSerValCysProIleValAspCysIleLysMetValSerArgThrThrProTyrGluProLysArgGlyValProLeuSerValAsnProValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674705",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370192.8:c.1831G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000110.4:c.1831G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359211.3:p.Glu611Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000101.2:p.Glu611Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}