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  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4546068",
  "communityStandardTitle": [
    "NM_014141.6(CNTNAP2):c.1480G>T (p.Glu494Ter)"
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        "preferredName": "NM_014141.6(CNTNAP2):c.1480G>T (p.Glu494Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/438340",
        "RCV": [
          "RCV000505263"
        ],
        "variationId": 438340
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-146997364-G-T",
        "id": "7-146997364-G-T",
        "variant": "7:146997364 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.146997364G>T?assembly=hg19",
        "id": "chr7:g.146997364G>T"
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    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.147300272G>T?assembly=hg38",
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/149032771",
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      "referenceGenome": "GRCh38",
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    {
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        {
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      "referenceGenome": "GRCh37",
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    {
      "chromosome": "7",
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      "referenceSequence": "http://reg.genome.network/refseq/RS673478"
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      "referenceSequence": "http://reg.genome.network/refseq/RS749527",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "NM_014141.6:c.1480G>T"
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            "hgvs": "NP_054860.1:p.Glu494Ter"
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      "coordinates": [
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          "start": 1341
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      "gene": "http://reg.genome.network/gene/GN013830",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS763445"
    },
    {
      "coordinates": [
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      ],
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS764043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "G",
          "start": 962
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      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000637825.1:n.963G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS764137"
    },
    {
      "coordinates": [
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          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN013830",
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      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000638117.1:n.1383G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS764351"
    },
    {
      "coordinates": [
        {
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          "end": 1998,
          "referenceAllele": "G",
          "start": 1997
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      ],
      "gene": "http://reg.genome.network/gene/GN013830",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265625"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645509808",
      "coordinates": [
        {
          "allele": "T",
          "end": 1996,
          "referenceAllele": "G",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "NM_014141.5:c.1480G>T"
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      "proteinEffect": {
        "hgvs": "NP_054860.1:p.Glu494Ter",
        "hgvsWellDefined": "NP_054860.1:p.Glu494_Ile1331delinsLysTyrPhePheGlyGlyPheLeuAsnGlnMetAsnAsnSerSerHisSerValLeuGlnProSerPheGlnGlyCysMetGlnLeuIleGlnValAspAspGlnLeuValAsnLeuTyrGluValAlaGlnArgLysProGlySerPheAlaAsnValSerIleAspMetCysAlaIleIleAspArgCysValProAsnHisCysGluHisGlyGlyLysCysSerGlnThrTrpAspSerPheLysCysThrCysAspGluThrGlyTyrSerGlyAlaThrCysHisAsnSerIleTyrGluProSerCysGluAlaTyrLysHisLeuGlyGlnThrSerAsnTyrTyrTrpIleAspProAspGlySerGlyProLeuGlyProLeuLysValTyrCysAsnMetThrGluAspLysValTrpThrIleValSerHisAspLeuGlnMetGlnThrProValValGlyTyrAsnProGluLysTyrSerValThrGlnLeuValTyrSerAlaSerMetAspGlnIleSerAlaIleThrAspSerAlaGluTyrCysGluGlnTyrValSerTyrPheCysLysMetSerArgLeuLeuAsnThrProAspGlySerProTyrThrTrpTrpValGlyLysAlaAsnGluLysHisTyrTyrTrpGlyGlySerGlyProGlyIleGlnLysCysAlaCysGlyIleGluArgAsnCysThrAspProLysTyrTyrCysAsnCysAspAlaAspTyrLysGlnTrpArgLysAspAlaGlyPheLeuSerTyrLysAspHisLeuProValSerGlnValValValGlyAspThrAspArgGlnGlySerGluAlaLysLeuSerValGlyProLeuArgCysGlnGlyAspArgAsnTyrTrpAsnAlaAlaSerPheProAsnProSerSerTyrLeuHisPheSerThrPheGlnGlyGluThrSerAlaAspIleSerPheTyrPheLysThrLeuThrProTrpGlyValPheLeuGluAsnMetGlyLysGluAspPheIleLysLeuGluLeuLysSerAlaThrGluValSerPheSerPheAspValGlyAsnGlyProValGluIleValValArgSerProThrProLeuAsnAspAspGlnTrpHisArgValThrAlaGluArgAsnValLysGlnAlaSerLeuGlnValAspArgLeuProGlnGlnIleArgLysAlaProThrGluGlyHisThrArgLeuGluLeuTyrSerGlnLeuPheValGlyGlyAlaGlyGlyGlnGlnGlyPheLeuGlyCysIleArgSerLeuArgMetAsnGlyValThrLeuAspLeuGluGluArgAlaLysValThrSerGlyPheIleSerGlyCysSerGlyHisCysThrSerTyrGlyThrAsnCysGluAsnGlyGlyLysCysLeuGluArgTyrHisGlyTyrSerCysAspCysSerAsnThrAlaTyrAspGlyThrPheCysAsnLysAspValGlyAlaPhePheGluGluGlyMetTrpLeuArgTyrAsnPheGlnAlaProAlaThrAsnAlaArgAspSerSerSerArgValAspAsnAlaProAspGlnGlnAsnSerHisProAspLeuAlaGlnGluGluIleArgPheSerPheSerThrThrLysAlaProCysIleLeuLeuTyrIleSerSerPheThrThrAspPheLeuAlaValLeuValLysProThrGlySerLeuGlnIleArgTyrAsnLeuGlyGlyThrArgGluProTyrAsnIleAspValAspHisArgAsnMetAlaAsnGlyGlnProHisSerValAsnIleThrArgHisGluLysThrIlePheLeuLysLeuAspHisTyrProSerValSerTyrHisLeuProSerSerSerAspThrLeuPheAsnSerProLysSerLeuPheLeuGlyLysValIleGluThrGlyLysIleAspGlnGluIleHisLysTyrAsnThrProGlyPheThrGlyCysLeuSerArgValGlnPheAsnGlnIleAlaProLeuLysAlaAlaLeuArgGlnThrAsnAlaSerAlaHisValHisIleGlnGlyGluLeuValGluSerAsnCysGlyAlaSerProLeuThrLeuSerProMetSerSerAlaThrAspProTrpHisLeuAspHisLeuAspSerAlaSerAlaAspPheProTyrAsnProGlyGlnGlyGlnAlaIleArgAsnGlyValAsnArgAsnSerAlaIleIleGlyGlyValIleAlaValValIlePheThrIleLeuCysThrLeuValPheLeuIleArgTyrMetPheArgHisLysGlyThrTyrHisThrAsnGluAlaLysGlyAlaGluSerAlaGluSerAlaAspAlaAlaIleMetAsnAsnAspProAsnPheThrGluThrIleAspGluSerLysLysGluTrpLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "G",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_006715982.1:n.-33G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS071415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2150,
          "referenceAllele": "G",
          "start": 2149
        }
      ],
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        "XM_017011950.2:c.1480G>T"
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      "proteinEffect": {
        "hgvs": "XP_016867439.1:p.Glu494Ter",
        "hgvsWellDefined": "XP_016867439.1:p.Glu494_Gly714delinsLysTyrPhePheGlyGlyPheLeuAsnGlnMetAsnAsnSerSerHisSerValLeuGlnProSerPheGlnGlyCysMetGlnLeuIleGlnValAspAspGlnLeuValAsnLeuTyrGluValAlaGlnArgLysProGlySerPheAlaAsnValSerIleAspMetCysAlaIleIleAspArgCysValProAsnHisCysGluHisGlyGlyLysCysSerGlnThrTrpAspSerPheLysCysThrCysAspGluThrGlyTyrSerGlyAlaThrCysHisAsnSerIleTyrGluProSerCysGluAlaTyrLysHisLeuGlyGlnThrSerAsnTyrTyrTrpIleAspProAspGlySerGlyProLeuGlyProLeuLysValTyrCysAsnMetThrGluAspLysValTrpThrIleValSerHisAspLeuGlnMetGlnThrProValValGlyTyrAsnProGluLysTyrSerValThrGlnLeuValTyrSerAlaSerMetAspGlnIleSerAlaIleThrAspSerAlaGluTyrCysGluGlnTyrValSerTyrPheCysLysMetSerArgLeuLeuAsnThrProGlyLeuLeuIleCysArgIleAlaAspAlaArgLysArgSerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565676"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645509808",
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        {
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_054860.1:p.Glu494Ter",
        "hgvsWellDefined": "NP_054860.1:p.Glu494_Ile1331delinsLysTyrPhePheGlyGlyPheLeuAsnGlnMetAsnAsnSerSerHisSerValLeuGlnProSerPheGlnGlyCysMetGlnLeuIleGlnValAspAspGlnLeuValAsnLeuTyrGluValAlaGlnArgLysProGlySerPheAlaAsnValSerIleAspMetCysAlaIleIleAspArgCysValProAsnHisCysGluHisGlyGlyLysCysSerGlnThrTrpAspSerPheLysCysThrCysAspGluThrGlyTyrSerGlyAlaThrCysHisAsnSerIleTyrGluProSerCysGluAlaTyrLysHisLeuGlyGlnThrSerAsnTyrTyrTrpIleAspProAspGlySerGlyProLeuGlyProLeuLysValTyrCysAsnMetThrGluAspLysValTrpThrIleValSerHisAspLeuGlnMetGlnThrProValValGlyTyrAsnProGluLysTyrSerValThrGlnLeuValTyrSerAlaSerMetAspGlnIleSerAlaIleThrAspSerAlaGluTyrCysGluGlnTyrValSerTyrPheCysLysMetSerArgLeuLeuAsnThrProAspGlySerProTyrThrTrpTrpValGlyLysAlaAsnGluLysHisTyrTyrTrpGlyGlySerGlyProGlyIleGlnLysCysAlaCysGlyIleGluArgAsnCysThrAspProLysTyrTyrCysAsnCysAspAlaAspTyrLysGlnTrpArgLysAspAlaGlyPheLeuSerTyrLysAspHisLeuProValSerGlnValValValGlyAspThrAspArgGlnGlySerGluAlaLysLeuSerValGlyProLeuArgCysGlnGlyAspArgAsnTyrTrpAsnAlaAlaSerPheProAsnProSerSerTyrLeuHisPheSerThrPheGlnGlyGluThrSerAlaAspIleSerPheTyrPheLysThrLeuThrProTrpGlyValPheLeuGluAsnMetGlyLysGluAspPheIleLysLeuGluLeuLysSerAlaThrGluValSerPheSerPheAspValGlyAsnGlyProValGluIleValValArgSerProThrProLeuAsnAspAspGlnTrpHisArgValThrAlaGluArgAsnValLysGlnAlaSerLeuGlnValAspArgLeuProGlnGlnIleArgLysAlaProThrGluGlyHisThrArgLeuGluLeuTyrSerGlnLeuPheValGlyGlyAlaGlyGlyGlnGlnGlyPheLeuGlyCysIleArgSerLeuArgMetAsnGlyValThrLeuAspLeuGluGluArgAlaLysValThrSerGlyPheIleSerGlyCysSerGlyHisCysThrSerTyrGlyThrAsnCysGluAsnGlyGlyLysCysLeuGluArgTyrHisGlyTyrSerCysAspCysSerAsnThrAlaTyrAspGlyThrPheCysAsnLysAspValGlyAlaPhePheGluGluGlyMetTrpLeuArgTyrAsnPheGlnAlaProAlaThrAsnAlaArgAspSerSerSerArgValAspAsnAlaProAspGlnGlnAsnSerHisProAspLeuAlaGlnGluGluIleArgPheSerPheSerThrThrLysAlaProCysIleLeuLeuTyrIleSerSerPheThrThrAspPheLeuAlaValLeuValLysProThrGlySerLeuGlnIleArgTyrAsnLeuGlyGlyThrArgGluProTyrAsnIleAspValAspHisArgAsnMetAlaAsnGlyGlnProHisSerValAsnIleThrArgHisGluLysThrIlePheLeuLysLeuAspHisTyrProSerValSerTyrHisLeuProSerSerSerAspThrLeuPheAsnSerProLysSerLeuPheLeuGlyLysValIleGluThrGlyLysIleAspGlnGluIleHisLysTyrAsnThrProGlyPheThrGlyCysLeuSerArgValGlnPheAsnGlnIleAlaProLeuLysAlaAlaLeuArgGlnThrAsnAlaSerAlaHisValHisIleGlnGlyGluLeuValGluSerAsnCysGlyAlaSerProLeuThrLeuSerProMetSerSerAlaThrAspProTrpHisLeuAspHisLeuAspSerAlaSerAlaAspPheProTyrAsnProGlyGlnGlyGlnAlaIleArgAsnGlyValAsnArgAsnSerAlaIleIleGlyGlyValIleAlaValValIlePheThrIleLeuCysThrLeuValPheLeuIleArgTyrMetPheArgHisLysGlyThrTyrHisThrAsnGluAlaLysGlyAlaGluSerAlaGluSerAlaAspAlaAlaIleMetAsnAsnAspProAsnPheThrGluThrIleAspGluSerLysLysGluTrpLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361727.8:c.1480G>T"
          },
          "RefSeq": {
            "hgvs": "NM_014141.6:c.1480G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354778.3:p.Glu494Ter"
          },
          "RefSeq": {
            "hgvs": "NP_054860.1:p.Glu494Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}