{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10603047",
  "communityStandardTitle": [
    "NM_014141.6(CNTNAP2):c.1819C>T (p.Gln607Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=264348[alleleid]",
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        "preferredName": "NM_014141.6(CNTNAP2):c.1819C>T (p.Gln607Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/280860",
        "RCV": [
          "RCV000264586"
        ],
        "variationId": 280860
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.147259271C>T?assembly=hg19",
        "id": "chr7:g.147259271C>T"
      }
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.147562179C>T?assembly=hg38",
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886041991",
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    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-147562179-C-T?dataset=gnomad_r4",
        "id": "7-147562179-C-T",
        "variant": "7:147562179 C / T"
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    ]
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      "chromosome": "7",
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
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    {
      "chromosome": "7",
      "coordinates": [
        {
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      "referenceGenome": "GRCh37",
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    {
      "chromosome": "7",
      "coordinates": [
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      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
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      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS000472"
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        "NG_007092.3:g.1451179C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS673478"
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        {
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      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
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      "referenceSequence": "http://reg.genome.network/refseq/RS749527",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000361727.8:c.1819C>T"
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          "RefSeq": {
            "hgvs": "NM_014141.6:c.1819C>T"
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          "RefSeq": {
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        }
      }
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      "coordinates": [
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          "allele": "T",
          "end": 1681,
          "referenceAllele": "C",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
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      "geneSymbol": "CNTNAP2",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS763445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1302,
          "referenceAllele": "C",
          "start": 1301
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      ],
      "gene": "http://reg.genome.network/gene/GN013830",
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      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000637825.1:n.1302C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS764137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1722,
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          "start": 1721
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      ],
      "gene": "http://reg.genome.network/gene/GN013830",
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      "hgvs": [
        "ENST00000638117.1:n.1722C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS764351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 2336
        }
      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS265625"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645431139",
      "coordinates": [
        {
          "allele": "T",
          "end": 2335,
          "referenceAllele": "C",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "NM_014141.5:c.1819C>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "XM_006715919.1:c.307C>T"
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      "proteinEffect": {
        "hgvs": "XP_006715982.1:p.Gln103Ter",
        "hgvsWellDefined": "XP_006715982.1:p.Gln103_Ile827delinsThrSerAsnTyrTyrTrpIleAspProAspGlySerGlyProLeuGlyProLeuLysValTyrCysAsnMetThrGluAspLysValTrpThrIleValSerHisAspLeuGlnMetGlnThrProValValGlyTyrAsnProGluLysTyrSerValThrGlnLeuValTyrSerAlaSerMetAspGlnIleSerAlaIleThrAspSerAlaGluTyrCysGluGlnTyrValSerTyrPheCysLysMetSerArgLeuLeuAsnThrProAspGlySerProTyrThrTrpTrpValGlyLysAlaAsnGluLysHisTyrTyrTrpGlyGlySerGlyProGlyIleGlnLysCysAlaCysGlyIleGluArgAsnCysThrAspProLysTyrTyrCysAsnCysAspAlaAspTyrLysGlnTrpArgLysAspAlaGlyPheLeuSerTyrLysAspHisLeuProValSerGlnValValValGlyAspThrAspArgGlnGlySerGluAlaLysLeuSerValGlyProLeuArgCysGlnGlyAspArgAsnTyrTrpAsnAlaAlaSerPheProAsnProSerSerTyrLeuHisPheSerThrPheGlnGlyGluThrSerAlaAspIleSerPheTyrPheLysThrLeuThrProTrpGlyValPheLeuGluAsnMetGlyLysGluAspPheIleLysLeuGluLeuLysSerAlaThrGluValSerPheSerPheAspValGlyAsnGlyProValGluIleValValArgSerProThrProLeuAsnAspAspGlnTrpHisArgValThrAlaGluArgAsnValLysGlnAlaSerLeuGlnValAspArgLeuProGlnGlnIleArgLysAlaProThrGluGlyHisThrArgLeuGluLeuTyrSerGlnLeuPheValGlyGlyAlaGlyGlyGlnGlnGlyPheLeuGlyCysIleArgSerLeuArgMetAsnGlyValThrLeuAspLeuGluGluArgAlaLysValThrSerGlyPheIleSerGlyCysSerGlyHisCysThrSerTyrGlyThrAsnCysGluAsnGlyGlyLysCysLeuGluArgTyrHisGlyTyrSerCysAspCysSerAsnThrAlaTyrAspGlyThrPheCysAsnLysAspValGlyAlaPhePheGluGluGlyMetTrpLeuArgTyrAsnPheGlnAlaProAlaThrAsnAlaArgAspSerSerSerArgValAspAsnAlaProAspGlnGlnAsnSerHisProAspLeuAlaGlnGluGluIleArgPheSerPheSerThrThrLysAlaProCysIleLeuLeuTyrIleSerSerPheThrThrAspPheLeuAlaValLeuValLysProThrGlySerLeuGlnIleArgTyrAsnLeuGlyGlyThrArgGluProTyrAsnIleAspValAspHisArgAsnMetAlaAsnGlyGlnProHisSerValAsnIleThrArgHisGluLysThrIlePheLeuLysLeuAspHisTyrProSerValSerTyrHisLeuProSerSerSerAspThrLeuPheAsnSerProLysSerLeuPheLeuGlyLysValIleGluThrGlyLysIleAspGlnGluIleHisLysTyrAsnThrProGlyPheThrGlyCysLeuSerArgValGlnPheAsnGlnIleAlaProLeuLysAlaAlaLeuArgGlnThrAsnAlaSerAlaHisValHisIleGlnGlyGluLeuValGluSerAsnCysGlyAlaSerProLeuThrLeuSerProMetSerSerAlaThrAspProTrpHisLeuAspHisLeuAspSerAlaSerAlaAspPheProTyrAsnProGlyGlnGlyGlnAlaIleArgAsnGlyValAsnArgAsnSerAlaIleIleGlyGlyValIleAlaValValIlePheThrIleLeuCysThrLeuValPheLeuIleArgTyrMetPheArgHisLysGlyThrTyrHisThrAsnGluAlaLysGlyAlaGluSerAlaGluSerAlaAspAlaAlaIleMetAsnAsnAspProAsnPheThrGluThrIleAspGluSerLysLysGluTrpLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2489,
          "referenceAllele": "C",
          "start": 2488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "XM_017011950.2:c.1819C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867439.1:p.Gln607Ter",
        "hgvsWellDefined": "XP_016867439.1:p.Gln607_Gly714delinsThrSerAsnTyrTyrTrpIleAspProAspGlySerGlyProLeuGlyProLeuLysValTyrCysAsnMetThrGluAspLysValTrpThrIleValSerHisAspLeuGlnMetGlnThrProValValGlyTyrAsnProGluLysTyrSerValThrGlnLeuValTyrSerAlaSerMetAspGlnIleSerAlaIleThrAspSerAlaGluTyrCysGluGlnTyrValSerTyrPheCysLysMetSerArgLeuLeuAsnThrProGlyLeuLeuIleCysArgIleAlaAspAlaArgLysArgSerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565676"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645431139",
      "coordinates": [
        {
          "allele": "T",
          "end": 1895,
          "referenceAllele": "C",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
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      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "NM_014141.6:c.1819C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054860.1:p.Gln607Ter",
        "hgvsWellDefined": "NP_054860.1:p.Gln607_Ile1331delinsThrSerAsnTyrTyrTrpIleAspProAspGlySerGlyProLeuGlyProLeuLysValTyrCysAsnMetThrGluAspLysValTrpThrIleValSerHisAspLeuGlnMetGlnThrProValValGlyTyrAsnProGluLysTyrSerValThrGlnLeuValTyrSerAlaSerMetAspGlnIleSerAlaIleThrAspSerAlaGluTyrCysGluGlnTyrValSerTyrPheCysLysMetSerArgLeuLeuAsnThrProAspGlySerProTyrThrTrpTrpValGlyLysAlaAsnGluLysHisTyrTyrTrpGlyGlySerGlyProGlyIleGlnLysCysAlaCysGlyIleGluArgAsnCysThrAspProLysTyrTyrCysAsnCysAspAlaAspTyrLysGlnTrpArgLysAspAlaGlyPheLeuSerTyrLysAspHisLeuProValSerGlnValValValGlyAspThrAspArgGlnGlySerGluAlaLysLeuSerValGlyProLeuArgCysGlnGlyAspArgAsnTyrTrpAsnAlaAlaSerPheProAsnProSerSerTyrLeuHisPheSerThrPheGlnGlyGluThrSerAlaAspIleSerPheTyrPheLysThrLeuThrProTrpGlyValPheLeuGluAsnMetGlyLysGluAspPheIleLysLeuGluLeuLysSerAlaThrGluValSerPheSerPheAspValGlyAsnGlyProValGluIleValValArgSerProThrProLeuAsnAspAspGlnTrpHisArgValThrAlaGluArgAsnValLysGlnAlaSerLeuGlnValAspArgLeuProGlnGlnIleArgLysAlaProThrGluGlyHisThrArgLeuGluLeuTyrSerGlnLeuPheValGlyGlyAlaGlyGlyGlnGlnGlyPheLeuGlyCysIleArgSerLeuArgMetAsnGlyValThrLeuAspLeuGluGluArgAlaLysValThrSerGlyPheIleSerGlyCysSerGlyHisCysThrSerTyrGlyThrAsnCysGluAsnGlyGlyLysCysLeuGluArgTyrHisGlyTyrSerCysAspCysSerAsnThrAlaTyrAspGlyThrPheCysAsnLysAspValGlyAlaPhePheGluGluGlyMetTrpLeuArgTyrAsnPheGlnAlaProAlaThrAsnAlaArgAspSerSerSerArgValAspAsnAlaProAspGlnGlnAsnSerHisProAspLeuAlaGlnGluGluIleArgPheSerPheSerThrThrLysAlaProCysIleLeuLeuTyrIleSerSerPheThrThrAspPheLeuAlaValLeuValLysProThrGlySerLeuGlnIleArgTyrAsnLeuGlyGlyThrArgGluProTyrAsnIleAspValAspHisArgAsnMetAlaAsnGlyGlnProHisSerValAsnIleThrArgHisGluLysThrIlePheLeuLysLeuAspHisTyrProSerValSerTyrHisLeuProSerSerSerAspThrLeuPheAsnSerProLysSerLeuPheLeuGlyLysValIleGluThrGlyLysIleAspGlnGluIleHisLysTyrAsnThrProGlyPheThrGlyCysLeuSerArgValGlnPheAsnGlnIleAlaProLeuLysAlaAlaLeuArgGlnThrAsnAlaSerAlaHisValHisIleGlnGlyGluLeuValGluSerAsnCysGlyAlaSerProLeuThrLeuSerProMetSerSerAlaThrAspProTrpHisLeuAspHisLeuAspSerAlaSerAlaAspPheProTyrAsnProGlyGlnGlyGlnAlaIleArgAsnGlyValAsnArgAsnSerAlaIleIleGlyGlyValIleAlaValValIlePheThrIleLeuCysThrLeuValPheLeuIleArgTyrMetPheArgHisLysGlyThrTyrHisThrAsnGluAlaLysGlyAlaGluSerAlaGluSerAlaAspAlaAlaIleMetAsnAsnAspProAsnPheThrGluThrIleAspGluSerLysLysGluTrpLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361727.8:c.1819C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014141.6:c.1819C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354778.3:p.Gln607Ter"
          },
          "RefSeq": {
            "hgvs": "NP_054860.1:p.Gln607Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}