{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042238",
  "communityStandardTitle": [
    "NM_014339.7(IL17RA):c.1302_1318dup (p.Asn440ArgfsTer?)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359109[alleleid]",
        "alleleId": 359109,
        "preferredName": "NM_014339.7(IL17RA):c.1302_1318dup (p.Asn440fs)"
      }
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372204",
        "RCV": [
          "RCV000412511"
        ],
        "variationId": 372204
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.17589411_17589427dup17?assembly=hg19",
        "id": "chr22:g.17589411_17589427dup17"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.17108521_17108537dup17?assembly=hg38",
        "id": "chr22:g.17108521_17108537dup17"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518744",
        "rs": 1057518744
      }
    ]
  },
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    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "GGAGATGGTGGAGAGCA",
          "end": 17108537,
          "referenceAllele": "",
          "start": 17108537
        }
      ],
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        "CM000684.2:g.17108521_17108537dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "GGAGATGGTGGAGAGCA",
          "end": 17589427,
          "referenceAllele": "",
          "start": 17589427
        }
      ],
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        "CM000684.1:g.17589411_17589427dup"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "GGAGATGGTGGAGAGCA",
          "end": 15969427,
          "referenceAllele": "",
          "start": 15969427
        }
      ],
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
          "allele": "GGAGATGGTGGAGAGCA",
          "end": 28577,
          "referenceAllele": "",
          "start": 28577
        }
      ],
      "hgvs": [
        "NG_028257.1:g.28561_28577dup",
        "LRG_355:g.28561_28577dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004157"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GGAGATGGTGGAGAGCA",
          "end": 1216,
          "referenceAllele": "",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005985",
      "geneNCBI_id": 23765,
      "geneSymbol": "IL17RA",
      "hgvs": [
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        "hgvsWellDefined": "ENSP00000479970.1:p.[Asn406_Val411delinsArgArgTrpTrpArgAlaThr;Cys413Arg;Arg415_Gln422delinsSerSerCysAlaProAlaAlaArg;Leu424_Leu425delinsProSer;Gly428delinsArgSerTrp;Pro430_Val431delinsGlyGly;Arg434delinsCysGly;Cys435_Asp436insAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906237"
    },
    {
      "coordinates": [
        {
          "allele": "GGAGATGGTGGAGAGCA",
          "end": 1410,
          "referenceAllele": "",
          "start": 1410
        }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          },
          "RefSeq": {
            "hgvs": "NM_014339.7:c.1302_1318dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320936.6:p.Asn440ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_055154.3:p.Asn440ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GGAGATGGTGGAGAGCA",
          "end": 1451,
          "referenceAllele": "",
          "start": 1451
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      "geneSymbol": "IL17RA",
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      ],
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        "hgvsWellDefined": "ENSP00000320936.6:p.[Asn440_Val445delinsArgArgTrpTrpArgAlaThr;Cys447Arg;Arg449_Gln456delinsSerSerCysAlaProAlaAlaArg;Leu458_Leu459delinsProSer;Gly462delinsArgSerTrp;Pro464_Val465delinsGlyGly;Arg468delinsCysGly;Cys469_Asp470insAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257660"
    },
    {
      "coordinates": [
        {
          "allele": "GGAGATGGTGGAGAGCA",
          "end": 1349,
          "referenceAllele": "",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005985",
      "geneNCBI_id": 23765,
      "geneSymbol": "IL17RA",
      "hgvs": [
        "ENST00000612619.1:c.1200_1216dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479970.1:p.Asn406ArgfsTer?",
        "hgvsWellDefined": "ENSP00000479970.1:p.[Asn406_Val411delinsArgArgTrpTrpArgAlaThr;Cys413Arg;Arg415_Gln422delinsSerSerCysAlaProAlaAlaArg;Leu424_Leu425delinsProSer;Gly428delinsArgSerTrp;Pro430_Val431delinsGlyGly;Arg434delinsCysGly;Cys435_Asp436insAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401380"
    },
    {
      "coordinates": [
        {
          "allele": "GGAGATGGTGGAGAGCA",
          "end": 1349,
          "referenceAllele": "",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005985",
      "geneNCBI_id": 23765,
      "geneSymbol": "IL17RA",
      "hgvs": [
        "NM_001289905.1:c.1200_1216dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276834.1:p.Asn406ArgfsTer?",
        "hgvsWellDefined": "NP_001276834.1:p.[Asn406_Val411delinsArgArgTrpTrpArgAlaThr;Cys413Arg;Arg415_Gln422delinsSerSerCysAlaProAlaAlaArg;Leu424_Leu425delinsProSer;Gly428delinsArgSerTrp;Pro430_Val431delinsGlyGly;Arg434delinsCysGly;Cys435_Asp436insAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023928"
    },
    {
      "coordinates": [
        {
          "allele": "GGAGATGGTGGAGAGCA",
          "end": 1451,
          "referenceAllele": "",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005985",
      "geneNCBI_id": 23765,
      "geneSymbol": "IL17RA",
      "hgvs": [
        "NM_014339.6:c.1302_1318dup",
        "LRG_355t1:c.1302_1318dup"
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      "proteinEffect": {
        "hgvs": "NP_055154.3:p.Asn440ArgfsTer?",
        "hgvsWellDefined": "NP_055154.3:p.[Asn440_Val445delinsArgArgTrpTrpArgAlaThr;Cys447Arg;Arg449_Gln456delinsSerSerCysAlaProAlaAlaArg;Leu458_Leu459delinsProSer;Gly462delinsArgSerTrp;Pro464_Val465delinsGlyGly;Arg468delinsCysGly;Cys469_Asp470insAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033096"
    },
    {
      "coordinates": [
        {
          "allele": "GGAGATGGTGGAGAGCA",
          "end": 1410,
          "referenceAllele": "",
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        }
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      "geneSymbol": "IL17RA",
      "hgvs": [
        "NM_014339.7:c.1302_1318dup"
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      "proteinEffect": {
        "hgvs": "NP_055154.3:p.Asn440ArgfsTer?",
        "hgvsWellDefined": "NP_055154.3:p.[Asn440_Val445delinsArgArgTrpTrpArgAlaThr;Cys447Arg;Arg449_Gln456delinsSerSerCysAlaProAlaAlaArg;Leu458_Leu459delinsProSer;Gly462delinsArgSerTrp;Pro464_Val465delinsGlyGly;Arg468delinsCysGly;Cys469_Asp470insAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697230",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320936.6:p.Asn440ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_055154.3:p.Asn440ArgfsTer?"
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        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GGAGATGGTGGAGAGCA",
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          "referenceAllele": "",
          "start": 1308
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      ],
      "gene": "http://reg.genome.network/gene/GN005985",
      "geneNCBI_id": 23765,
      "geneSymbol": "IL17RA",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001276834.1:p.Asn406ArgfsTer?",
        "hgvsWellDefined": "NP_001276834.1:p.[Asn406_Val411delinsArgArgTrpTrpArgAlaThr;Cys413Arg;Arg415_Gln422delinsSerSerCysAlaProAlaAlaArg;Leu424_Leu425delinsProSer;Gly428delinsArgSerTrp;Pro430_Val431delinsGlyGly;Arg434delinsCysGly;Cys435_Asp436insAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716604"
    }
  ],
  "type": "nucleotide"
}