{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16617217",
  "communityStandardTitle": [
    "NM_000110.4(DPYD):c.2135del (p.Pro712GlnfsTer7)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=405273[alleleid]",
        "alleleId": 405273,
        "preferredName": "NM_000110.4(DPYD):c.2135del (p.Pro712fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/423651",
        "RCV": [
          "RCV000485311"
        ],
        "variationId": 423651
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.97771777del?assembly=hg19",
        "id": "chr1:g.97771777del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.97306221del?assembly=hg38",
        "id": "chr1:g.97306221del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064796552",
        "rs": 1064796552
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 97306224,
          "referenceAllele": "G",
          "start": 97306223
        }
      ],
      "hgvs": [
        "NC_000001.11:g.97306224del",
        "CM000663.2:g.97306224del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 97771780,
          "referenceAllele": "G",
          "start": 97771779
        }
      ],
      "hgvs": [
        "NC_000001.10:g.97771780del",
        "CM000663.1:g.97771780del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 97544368,
          "referenceAllele": "G",
          "start": 97544367
        }
      ],
      "hgvs": [
        "NC_000001.9:g.97544368del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 619839,
          "referenceAllele": "C",
          "start": 619838
        }
      ],
      "hgvs": [
        "NG_008807.2:g.619839del",
        "LRG_722:g.619839del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001226"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2247,
          "referenceAllele": "C",
          "start": 2246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "ENST00000370192.8:c.2135del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359211.3:p.Pro712GlnfsTer7",
        "hgvsWellDefined": "ENSP00000359211.3:p.[Pro712_Asp716delinsGlnMetSerLeu;Val718_Gly740del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750558",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370192.8:c.2135del"
          },
          "RefSeq": {
            "hgvs": "NM_000110.4:c.2135del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359211.3:p.Pro712GlnfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_000101.2:p.Pro712GlnfsTer7"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2236,
          "referenceAllele": "C",
          "start": 2235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "ENST00000370192.7:c.2135del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359211.3:p.Pro712GlnfsTer7",
        "hgvsWellDefined": "ENSP00000359211.3:p.[Pro712_Asp716delinsGlnMetSerLeu;Val718_Gly740del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267925"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2272,
          "referenceAllele": "C",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "NM_000110.3:c.2135del",
        "LRG_722t1:c.2135del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000101.2:p.Pro712GlnfsTer7",
        "hgvsWellDefined": "NP_000101.2:p.[Pro712_Asp716delinsGlnMetSerLeu;Val718_Gly740del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006173"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040195",
      "geneNCBI_id": 100873932,
      "geneSymbol": "DPYD-AS1",
      "hgvs": [
        "NR_046590.1:n.164del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051772"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2056,
          "referenceAllele": "C",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_005270562.3:c.1919del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270619.2:p.Pro640GlnfsTer7",
        "hgvsWellDefined": "XP_005270619.2:p.[Pro640_Asp644delinsGlnMetSerLeu;Val646_Gly668del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066568"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2272,
          "referenceAllele": "C",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_006710397.2:c.2135del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710460.1:p.Pro712GlnfsTer7",
        "hgvsWellDefined": "XP_006710460.1:p.[Pro712_Asp716delinsGlnMetSerLeu;Val718_Gly740del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068587"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2272,
          "referenceAllele": "C",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_006710397.3:c.2135del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710460.1:p.Pro712GlnfsTer7",
        "hgvsWellDefined": "XP_006710460.1:p.[Pro712_Asp716delinsGlnMetSerLeu;Val718_Gly740del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537767"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2155,
          "referenceAllele": "C",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000507.1:c.2024del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855996.1:p.Pro675GlnfsTer7",
        "hgvsWellDefined": "XP_016855996.1:p.[Pro675_Asp679delinsGlnMetSerLeu;Val681_Gly703del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556868"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2425,
          "referenceAllele": "C",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000508.2:c.1640del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855997.1:p.Pro547GlnfsTer7",
        "hgvsWellDefined": "XP_016855997.1:p.[Pro547_Asp551delinsGlnMetSerLeu;Val553_Gly575del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556869"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2324,
          "referenceAllele": "C",
          "start": 2323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000509.2:c.1640del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855998.1:p.Pro547GlnfsTer7",
        "hgvsWellDefined": "XP_016855998.1:p.[Pro547_Asp551delinsGlnMetSerLeu;Val553_Gly575del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556870"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2269,
          "referenceAllele": "C",
          "start": 2268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "XM_017000510.1:c.1640del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855999.1:p.Pro547GlnfsTer7",
        "hgvsWellDefined": "XP_016855999.1:p.[Pro547_Asp551delinsGlnMetSerLeu;Val553_Gly575del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556871"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2247,
          "referenceAllele": "C",
          "start": 2246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003012",
      "geneNCBI_id": 1806,
      "geneSymbol": "DPYD",
      "hgvs": [
        "NM_000110.4:c.2135del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000101.2:p.Pro712GlnfsTer7",
        "hgvsWellDefined": "NP_000101.2:p.[Pro712_Asp716delinsGlnMetSerLeu;Val718_Gly740del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674705",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370192.8:c.2135del"
          },
          "RefSeq": {
            "hgvs": "NM_000110.4:c.2135del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359211.3:p.Pro712GlnfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_000101.2:p.Pro712GlnfsTer7"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}