{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA163343",
  "communityStandardTitle": [
    "NM_001282531.3(ADNP):c.1211C>A (p.Ser404Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=143256[alleleid]",
        "alleleId": 143256,
        "preferredName": "NM_001282531.3(ADNP):c.1211C>A (p.Ser404Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/139633",
        "RCV": [
          "RCV000128576"
        ],
        "variationId": 139633
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.49510040G>T?assembly=hg19",
        "id": "chr20:g.49510040G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.50893503G>T?assembly=hg38",
        "id": "chr20:g.50893503G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777524",
        "rs": 587777524
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 50893503,
          "referenceAllele": "G",
          "start": 50893502
        }
      ],
      "hgvs": [
        "NC_000020.11:g.50893503G>T",
        "CM000682.2:g.50893503G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 49510040,
          "referenceAllele": "G",
          "start": 49510039
        }
      ],
      "hgvs": [
        "NC_000020.10:g.49510040G>T",
        "CM000682.1:g.49510040G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 48943447,
          "referenceAllele": "G",
          "start": 48943446
        }
      ],
      "hgvs": [
        "NC_000020.9:g.48943447G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42488,
          "referenceAllele": "C",
          "start": 42487
        }
      ],
      "hgvs": [
        "NG_034200.1:g.42488C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005799"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1508,
          "referenceAllele": "C",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000349014.8:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342905.3:p.Ser404Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748388"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2773,
          "referenceAllele": "C",
          "start": 2772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000371602.9:c.1211C>A"
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      "proteinEffect": {
        "hgvs": "ENSP00000360662.2:p.Ser404Ter",
        "hgvsWellDefined": "ENSP00000360662.2:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750822"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1941,
          "referenceAllele": "C",
          "start": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000379346.3:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1812,
          "referenceAllele": "C",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379349.2:p.Ser404Ter",
        "hgvsWellDefined": "ENSP00000379349.2:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2087,
          "referenceAllele": "C",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000621696.5:c.1211C>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000483881.1:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762339",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000621696.5:c.1211C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001282531.3:c.1211C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483881.1:p.Ser404Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001269460.1:p.Ser404Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 288,
          "endIntronDirection": "-",
          "endIntronOffset": 3545,
          "referenceAllele": "C",
          "start": 288,
          "startIntronDirection": "-",
          "startIntronOffset": 3546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000644386.1:c.202-3546C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493755.1:n.202-3546C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1642,
          "referenceAllele": "C",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
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      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000645081.1:c.527C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495540.1:p.Ser176Ter",
        "hgvsWellDefined": "ENSP00000495540.1:p.Ser176_Ala874delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2046,
          "referenceAllele": "C",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000673732.1:c.1427C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501294.1:p.Ser476Ter",
        "hgvsWellDefined": "ENSP00000501294.1:p.Ser476_Ala1174delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1508,
          "referenceAllele": "C",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000349014.7:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342905.3:p.Ser404Ter",
        "hgvsWellDefined": "ENSP00000342905.3:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1531,
          "referenceAllele": "C",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000371602.8:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360662.2:p.Ser404Ter",
        "hgvsWellDefined": "ENSP00000360662.2:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268664"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1806,
          "referenceAllele": "C",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000396029.7:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379346.3:p.Ser404Ter",
        "hgvsWellDefined": "ENSP00000379346.3:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1381,
          "referenceAllele": "C",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000396032.7:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379349.2:p.Ser404Ter",
        "hgvsWellDefined": "ENSP00000379349.2:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1640,
          "referenceAllele": "C",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000621696.4:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483881.1:p.Ser404Ter",
        "hgvsWellDefined": "ENSP00000483881.1:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA163344",
      "coordinates": [
        {
          "allele": "A",
          "end": 1640,
          "referenceAllele": "C",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001282531.1:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269460.1:p.Ser404Ter",
        "hgvsWellDefined": "NP_001269460.1:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022018"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826649675",
      "coordinates": [
        {
          "allele": "A",
          "end": 1508,
          "referenceAllele": "C",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001282532.1:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269461.1:p.Ser404Ter",
        "hgvsWellDefined": "NP_001269461.1:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022019"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829813736",
      "coordinates": [
        {
          "allele": "A",
          "end": 1556,
          "referenceAllele": "C",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_015339.3:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056154.1:p.Ser404Ter",
        "hgvsWellDefined": "NP_056154.1:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077270",
      "coordinates": [
        {
          "allele": "A",
          "end": 1381,
          "referenceAllele": "C",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_181442.2:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_852107.1:p.Ser404Ter",
        "hgvsWellDefined": "NP_852107.1:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043705"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1239,
          "referenceAllele": "C",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_011528747.1:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527049.1:p.Ser404Ter",
        "hgvsWellDefined": "XP_011527049.1:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_011528748.1:c.1238C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527050.1:p.Ser413Ter",
        "hgvsWellDefined": "XP_011527050.1:p.Ser413_Ala1111delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA163344",
      "coordinates": [
        {
          "allele": "A",
          "end": 1863,
          "referenceAllele": "C",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001282531.2:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269460.1:p.Ser404Ter",
        "hgvsWellDefined": "NP_001269460.1:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827400106",
      "coordinates": [
        {
          "allele": "A",
          "end": 1688,
          "referenceAllele": "C",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001347511.1:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334440.1:p.Ser404Ter",
        "hgvsWellDefined": "NP_001334440.1:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829813736",
      "coordinates": [
        {
          "allele": "A",
          "end": 1779,
          "referenceAllele": "C",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_015339.4:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056154.1:p.Ser404Ter",
        "hgvsWellDefined": "NP_056154.1:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077270",
      "coordinates": [
        {
          "allele": "A",
          "end": 1604,
          "referenceAllele": "C",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_181442.3:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_852107.1:p.Ser404Ter",
        "hgvsWellDefined": "NP_852107.1:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1733,
          "referenceAllele": "C",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_011528747.2:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527049.1:p.Ser404Ter",
        "hgvsWellDefined": "XP_011527049.1:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1290,
          "referenceAllele": "C",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_011528748.2:c.1238C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527050.1:p.Ser413Ter",
        "hgvsWellDefined": "XP_011527050.1:p.Ser413_Ala1111delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549239"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2446,
          "referenceAllele": "C",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_017027758.1:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883247.1:p.Ser404Ter",
        "hgvsWellDefined": "XP_016883247.1:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_017027759.1:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883248.1:p.Ser404Ter",
        "hgvsWellDefined": "XP_016883248.1:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA163344",
      "coordinates": [
        {
          "allele": "A",
          "end": 2087,
          "referenceAllele": "C",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001282531.3:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269460.1:p.Ser404Ter",
        "hgvsWellDefined": "NP_001269460.1:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000621696.5:c.1211C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001282531.3:c.1211C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483881.1:p.Ser404Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001269460.1:p.Ser404Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827400106",
      "coordinates": [
        {
          "allele": "A",
          "end": 1912,
          "referenceAllele": "C",
          "start": 1911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001347511.2:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334440.1:p.Ser404Ter",
        "hgvsWellDefined": "NP_001334440.1:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687470"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829813736",
      "coordinates": [
        {
          "allele": "A",
          "end": 2003,
          "referenceAllele": "C",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_015339.5:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056154.1:p.Ser404Ter",
        "hgvsWellDefined": "NP_056154.1:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697515"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077270",
      "coordinates": [
        {
          "allele": "A",
          "end": 1828,
          "referenceAllele": "C",
          "start": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_181442.4:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_852107.1:p.Ser404Ter",
        "hgvsWellDefined": "NP_852107.1:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826649675",
      "coordinates": [
        {
          "allele": "A",
          "end": 1508,
          "referenceAllele": "C",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001282532.2:c.1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269461.1:p.Ser404Ter",
        "hgvsWellDefined": "NP_001269461.1:p.Ser404_Ala1102delinsGlyGlnLeuLysSerProSerLeuSerGlnSerGlnAlaSerArgValLeuGlyGlnSerSerSerLysProAlaAlaAlaAlaThrGlyProProProGlyAsnThrSerSerThrGlnLysTrpLysIleCysThrIleCysAsnGluLeuPheProGluAsnValTyrSerValHisPheGluLysGluHisLysAlaGluLysValProAlaValAlaAsnTyrIleMetLysIleHisAsnPheThrSerLysCysLeuTyrCysAsnArgTyrLeuProThrAspThrLeuLeuAsnHisMetLeuIleHisGlyLeuSerCysProTyrCysArgSerThrPheAsnAspValGluLysMetAlaAlaHisMetArgMetValHisIleAspGluGluMetGlyProLysThrAspSerThrLeuSerPheAspLeuThrLeuGlnGlnGlySerHisThrAsnIleHisLeuLeuValThrThrTyrAsnLeuArgAspAlaProAlaGluSerValAlaTyrHisAlaGlnAsnAsnProProValProProLysProGlnProLysValGlnGluLysAlaAspIleProValLysSerSerProGlnAlaAlaValProTyrLysLysAspValGlyLysThrLeuCysProLeuCysPheSerIleLeuLysGlyProIleSerAspAlaLeuAlaHisHisLeuArgGluArgHisGlnValIleGlnThrValHisProValGluLysLysLeuThrTyrLysCysIleHisCysLeuGlyValTyrThrSerAsnMetThrAlaSerThrIleThrLeuHisLeuValHisCysArgGlyValGlyLysThrGlnAsnGlyGlnAspLysThrAsnAlaProSerArgLeuAsnGlnSerProSerLeuAlaProValLysArgThrTyrGluGlnMetGluPheProLeuLeuLysLysArgLysLeuAspAspAspSerAspSerProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715832"
    }
  ],
  "type": "nucleotide"
}