{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3002198111",
  "communityStandardTitle": [
    "NM_000771.4(CYP2C9):c.816del (p.Lys273ArgfsTer?)"
  ],
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    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "",
          "end": 94949281,
          "referenceAllele": "G",
          "start": 94949280
        }
      ],
      "hgvs": [
        "NC_000010.11:g.94949281del",
        "CM000672.2:g.94949281del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "",
          "end": 96709038,
          "referenceAllele": "G",
          "start": 96709037
        }
      ],
      "hgvs": [
        "NC_000010.10:g.96709038del",
        "CM000672.1:g.96709038del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "",
          "end": 96699028,
          "referenceAllele": "G",
          "start": 96699027
        }
      ],
      "hgvs": [
        "NC_000010.9:g.96699028del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 15624,
          "referenceAllele": "G",
          "start": 15623
        }
      ],
      "hgvs": [
        "NG_008385.1:g.15624del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001068"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 16124,
          "referenceAllele": "G",
          "start": 16123
        }
      ],
      "hgvs": [
        "NG_008385.2:g.16124del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616103"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 841,
          "referenceAllele": "G",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002623",
      "geneNCBI_id": 1559,
      "geneSymbol": "CYP2C9",
      "hgvs": [
        "ENST00000260682.8:c.816del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260682.6:p.Lys273ArgfsTer?",
        "hgvsWellDefined": "ENSP00000260682.6:p.[Glu272_Lys273insArg;Glu274_His276delinsSerThrThr;Gln278_Asp293delinsHisLeuAsnLeuLeuLeuLysAlaTrpLysThrLeuGlnLeuThrCys;Phe295_Ala297delinsGluLeu;Thr299_Thr302delinsGlnArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742059",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260682.8:c.816del"
          },
          "RefSeq": {
            "hgvs": "NM_000771.4:c.816del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260682.6:p.Lys273ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000762.2:p.Lys273ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002623",
      "geneNCBI_id": 1559,
      "geneSymbol": "CYP2C9",
      "hgvs": [
        "ENST00000643112.1:c.816del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496202.1:p.Lys273SerfsTer2",
        "hgvsWellDefined": "ENSP00000496202.1:p.[Lys273_Lys275del;Arg277Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767096"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 828,
          "referenceAllele": "G",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002623",
      "geneNCBI_id": 1559,
      "geneSymbol": "CYP2C9",
      "hgvs": [
        "ENST00000260682.6:c.816del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260682.6:p.Lys273ArgfsTer?",
        "hgvsWellDefined": "ENSP00000260682.6:p.[Glu272_Lys273insArg;Glu274_His276delinsSerThrThr;Gln278_Asp293delinsHisLeuAsnLeuLeuLeuLysAlaTrpLysThrLeuGlnLeuThrCys;Phe295_Ala297delinsGluLeu;Thr299_Thr302delinsGlnArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250624"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 587,
          "referenceAllele": "G",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002623",
      "geneNCBI_id": 1559,
      "geneSymbol": "CYP2C9",
      "hgvs": [
        "ENST00000473496.1:n.587del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315228"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 841,
          "referenceAllele": "G",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002623",
      "geneNCBI_id": 1559,
      "geneSymbol": "CYP2C9",
      "hgvs": [
        "NM_000771.3:c.816del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000762.2:p.Lys273ArgfsTer?",
        "hgvsWellDefined": "NP_000762.2:p.[Glu272_Lys273insArg;Glu274_His276delinsSerThrThr;Gln278_Asp293delinsHisLeuAsnLeuLeuLeuLysAlaTrpLysThrLeuGlnLeuThrCys;Phe295_Ala297delinsGluLeu;Thr299_Thr302delinsGlnArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006801"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 841,
          "referenceAllele": "G",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002623",
      "geneNCBI_id": 1559,
      "geneSymbol": "CYP2C9",
      "hgvs": [
        "NM_000771.4:c.816del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000762.2:p.Lys273ArgfsTer?",
        "hgvsWellDefined": "NP_000762.2:p.[Glu272_Lys273insArg;Glu274_His276delinsSerThrThr;Gln278_Asp293delinsHisLeuAsnLeuLeuLeuLysAlaTrpLysThrLeuGlnLeuThrCys;Phe295_Ala297delinsGluLeu;Thr299_Thr302delinsGlnArgArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510847",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260682.8:c.816del"
          },
          "RefSeq": {
            "hgvs": "NM_000771.4:c.816del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260682.6:p.Lys273ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000762.2:p.Lys273ArgfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}