{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA515259290",
  "communityStandardTitle": [
    "NC_000022.11:g.50720446C>A"
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  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1693835[alleleid]",
        "alleleId": 1693835,
        "preferredName": "NM_001372044.2(SHANK3):c.2838C>A (p.Tyr946Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1701444",
        "RCV": [
          "RCV002276437"
        ],
        "variationId": 1701444
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.51158874C>A?assembly=hg19",
        "id": "chr22:g.51158874C>A"
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1001153999",
        "rs": 1001153999
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50720446-C-A?dataset=gnomad_r4",
        "id": "22-50720446-C-A",
        "variant": "22:50720446 C / A"
      }
    ]
  },
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    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 50720446,
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          "start": 50720445
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      ],
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        "CM000684.2:g.50720446C>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
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          "end": 51158874,
          "referenceAllele": "C",
          "start": 51158873
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      ],
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        "CM000684.1:g.51158874C>A"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 49505740,
          "referenceAllele": "C",
          "start": 49505739
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49505740C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
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          "end": 51092,
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS001127"
    },
    {
      "coordinates": [
        {
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        "NG_070230.1:g.56230C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS733373"
    }
  ],
  "transcriptAlleles": [
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      "geneNCBI_id": 85358,
      "geneSymbol": "SHANK3",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000489147.2:p.Tyr738_Ser1607delinsGluProGlyAlaAlaLeuGlyProLeuProTyrProGluArgGlnLysArgAlaArgSerMetIleIleLeuGlnAspSerAlaProGluSerGlyAspAlaProArgProProProAlaAlaThrProProGluArgProLysArgArgProArgProProGlyProAspSerProTyrAlaAsnLeuGlyAlaPheSerAlaSerLeuPheAlaProSerLysProGlnArgArgLysSerProLeuValLysGlnLeuGlnValGluAspAlaGlnGluArgAlaAlaLeuAlaValGlySerProGlyProGlyGlyGlySerPheAlaArgGluProSerProThrHisArgGlyProArgProGlyGlyLeuAspTyrGlyAlaGlyAspGlyProGlyLeuAlaPheGlyGlyProGlyProAlaLysAspArgArgLeuGluGluArgArgArgSerThrValPheLeuSerValGlyAlaIleGluGlySerAlaProGlyAlaAspLeuProSerLeuGlnProSerArgSerIleAspGluArgLeuLeuGlyThrGlyProThrAlaGlyArgAspLeuLeuLeuProSerProValSerAlaLeuLysProLeuValSerGlyProSerLeuGlyProSerGlySerThrPheIleHisProLeuThrGlyLysProLeuAspProSerSerProLeuAlaLeuAlaLeuAlaAlaArgGluArgAlaLeuAlaSerGlnAlaProSerArgSerProThrProValHisSerProAspAlaAspArgProGlyProLeuPheValAspValGlnAlaArgAspProGluArgGlySerLeuAlaSerProAlaPheSerProArgSerProAlaTrpIleProValProAlaArgArgGluAlaGluLysValProArgGluGluArgLysSerProGluAspLysLysSerMetIleLeuSerValLeuAspThrSerLeuGlnArgProAlaGlyLeuIleValValHisAlaThrSerAsnGlyGlnGluProSerArgLeuGlyGlyAlaGluGluGluArgProGlyThrProGluLeuAlaProAlaProMetGlnSerAlaAlaValAlaGluProLeuProSerProArgAlaGlnProProGlyGlyThrProAlaAspAlaGlyProGlyGlnGlySerSerGluGluGluProGluLeuValPheAlaValAsnLeuProProAlaGlnLeuSerSerSerAspGluGluThrArgGluGluLeuAlaArgIleGlyLeuValProProProGluGluPheAlaAsnGlyValLeuLeuAlaThrProLeuAlaGlyProGlyProSerProThrThrValProSerProAlaSerGlyLysProSerSerGluProProProAlaProGluSerAlaAlaAspSerGlyValGluGluAlaAspThrArgSerSerSerAspProHisLeuGluThrThrSerThrIleSerThrValSerSerMetSerThrLeuSerSerGluSerGlyGluLeuThrAspThrHisThrSerPheAlaAspGlyHisThrPheLeuLeuGluLysProProValProProLysProLysLeuLysSerProLeuGlyLysGlyProValThrPheArgAspProLeuLeuLysGlnSerSerAspSerGluLeuMetAlaGlnGlnHisHisAlaAlaSerAlaGlyLeuAlaSerAlaAlaGlyProAlaArgProArgTyrLeuPheGlnArgArgSerLysLeuTrpGlyAspProValGluSerArgGlyLeuProGlyProGluAspAspLysProThrValIleSerGluLeuSerSerArgLeuGlnGlnLeuAsnLysAspThrArgSerLeuGlyGluGluProValGlyGlyLeuGlySerLeuLeuAspProAlaLysLysSerProIleAlaAlaAlaArgCysArgSerProMetValGlyLeuArgLeuPheSerSerLeuGlyGluLeuSerSerIleSerAlaGlnArgSerProGlyGlyProGlyGlyGlyAlaSerTyrSerValArgProSerGlyArgTyrProValAlaArgArgAlaProSerProValLysProAlaSerLeuGluArgValGluGlyLeuGlyAlaGlyAlaGlyGlyAlaGlyArgProPheGlyLeuThrProProThrIleLeuLysSerSerSerLeuSerIleProHisGluProLysGluValArgPheValValArgSerValSerAlaArgSerArgSerProSerProSerProLeuProSerProAlaSerGlyProGlyProGlyAlaProGlyProArgArgProPheGlnGlnLysProLeuGlnLeuTrpSerLysPheAspValGlyAspTrpLeuGluSerIleHisLeuGlyGluHisArgAspArgPheGluAspHisGluIleGluGlyAlaHisLeuProAlaLeuThrLysAspAspPheValGluLeuGlyValThrArgValGlyHisArgMetAsnIleGluArgAlaLeuArgGlnLeuAspGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2798,
          "referenceAllele": "C",
          "start": 2797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014294",
      "geneNCBI_id": 85358,
      "geneSymbol": "SHANK3",
      "hgvs": [
        "ENST00000414786.7:n.2798C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS904711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "referenceAllele": "C",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014294",
      "geneNCBI_id": 85358,
      "geneSymbol": "SHANK3",
      "hgvs": [
        "ENST00000445220.7:c.1266C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489407.2:p.Tyr422Ter",
        "hgvsWellDefined": "ENSP00000489407.2:p.Tyr422_Ser1291delinsGluProGlyAlaAlaLeuGlyProLeuProTyrProGluArgGlnLysArgAlaArgSerMetIleIleLeuGlnAspSerAlaProGluSerGlyAspAlaProArgProProProAlaAlaThrProProGluArgProLysArgArgProArgProProGlyProAspSerProTyrAlaAsnLeuGlyAlaPheSerAlaSerLeuPheAlaProSerLysProGlnArgArgLysSerProLeuValLysGlnLeuGlnValGluAspAlaGlnGluArgAlaAlaLeuAlaValGlySerProGlyProGlyGlyGlySerPheAlaArgGluProSerProThrHisArgGlyProArgProGlyGlyLeuAspTyrGlyAlaGlyAspGlyProGlyLeuAlaPheGlyGlyProGlyProAlaLysAspArgArgLeuGluGluArgArgArgSerThrValPheLeuSerValGlyAlaIleGluGlySerAlaProGlyAlaAspLeuProSerLeuGlnProSerArgSerIleAspGluArgLeuLeuGlyThrGlyProThrAlaGlyArgAspLeuLeuLeuProSerProValSerAlaLeuLysProLeuValSerGlyProSerLeuGlyProSerGlySerThrPheIleHisProLeuThrGlyLysProLeuAspProSerSerProLeuAlaLeuAlaLeuAlaAlaArgGluArgAlaLeuAlaSerGlnAlaProSerArgSerProThrProValHisSerProAspAlaAspArgProGlyProLeuPheValAspValGlnAlaArgAspProGluArgGlySerLeuAlaSerProAlaPheSerProArgSerProAlaTrpIleProValProAlaArgArgGluAlaGluLysValProArgGluGluArgLysSerProGluAspLysLysSerMetIleLeuSerValLeuAspThrSerLeuGlnArgProAlaGlyLeuIleValValHisAlaThrSerAsnGlyGlnGluProSerArgLeuGlyGlyAlaGluGluGluArgProGlyThrProGluLeuAlaProAlaProMetGlnSerAlaAlaValAlaGluProLeuProSerProArgAlaGlnProProGlyGlyThrProAlaAspAlaGlyProGlyGlnGlySerSerGluGluGluProGluLeuValPheAlaValAsnLeuProProAlaGlnLeuSerSerSerAspGluGluThrArgGluGluLeuAlaArgIleGlyLeuValProProProGluGluPheAlaAsnGlyValLeuLeuAlaThrProLeuAlaGlyProGlyProSerProThrThrValProSerProAlaSerGlyLysProSerSerGluProProProAlaProGluSerAlaAlaAspSerGlyValGluGluAlaAspThrArgSerSerSerAspProHisLeuGluThrThrSerThrIleSerThrValSerSerMetSerThrLeuSerSerGluSerGlyGluLeuThrAspThrHisThrSerPheAlaAspGlyHisThrPheLeuLeuGluLysProProValProProLysProLysLeuLysSerProLeuGlyLysGlyProValThrPheArgAspProLeuLeuLysGlnSerSerAspSerGluLeuMetAlaGlnGlnHisHisAlaAlaSerAlaGlyLeuAlaSerAlaAlaGlyProAlaArgProArgTyrLeuPheGlnArgArgSerLysLeuTrpGlyAspProValGluSerArgGlyLeuProGlyProGluAspAspLysProThrValIleSerGluLeuSerSerArgLeuGlnGlnLeuAsnLysAspThrArgSerLeuGlyGluGluProValGlyGlyLeuGlySerLeuLeuAspProAlaLysLysSerProIleAlaAlaAlaArgCysArgSerProMetValGlyLeuArgLeuPheSerSerLeuGlyGluLeuSerSerIleSerAlaGlnArgSerProGlyGlyProGlyGlyGlyAlaSerTyrSerValArgProSerGlyArgTyrProValAlaArgArgAlaProSerProValLysProAlaSerLeuGluArgValGluGlyLeuGlyAlaGlyAlaGlyGlyAlaGlyArgProPheGlyLeuThrProProThrIleLeuLysSerSerSerLeuSerIleProHisGluProLysGluValArgPheValValArgSerValSerAlaArgSerArgSerProSerProSerProLeuProSerProAlaSerGlyProGlyProGlyAlaProGlyProArgArgProPheGlnGlnLysProLeuGlnLeuTrpSerLysPheAspValGlyAspTrpLeuGluSerIleHisLeuGlyGluHisArgAspArgPheGluAspHisGluIleGluGlyAlaHisLeuProAlaLeuThrLysAspAspPheValGluLeuGlyValThrArgValGlyHisArgMetAsnIleGluArgAlaLeuArgGlnLeuAspGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904943"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "C",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014294",
      "geneNCBI_id": 85358,
      "geneSymbol": "SHANK3",
      "hgvs": [
        "ENST00000664402.2:c.756C>A"
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      "proteinEffect": {
        "hgvs": "ENSP00000499475.1:p.Tyr252Ter",
        "hgvsWellDefined": "ENSP00000499475.1:p.Tyr252_Ser1121delinsGluProGlyAlaAlaLeuGlyProLeuProTyrProGluArgGlnLysArgAlaArgSerMetIleIleLeuGlnAspSerAlaProGluSerGlyAspAlaProArgProProProAlaAlaThrProProGluArgProLysArgArgProArgProProGlyProAspSerProTyrAlaAsnLeuGlyAlaPheSerAlaSerLeuPheAlaProSerLysProGlnArgArgLysSerProLeuValLysGlnLeuGlnValGluAspAlaGlnGluArgAlaAlaLeuAlaValGlySerProGlyProGlyGlyGlySerPheAlaArgGluProSerProThrHisArgGlyProArgProGlyGlyLeuAspTyrGlyAlaGlyAspGlyProGlyLeuAlaPheGlyGlyProGlyProAlaLysAspArgArgLeuGluGluArgArgArgSerThrValPheLeuSerValGlyAlaIleGluGlySerAlaProGlyAlaAspLeuProSerLeuGlnProSerArgSerIleAspGluArgLeuLeuGlyThrGlyProThrAlaGlyArgAspLeuLeuLeuProSerProValSerAlaLeuLysProLeuValSerGlyProSerLeuGlyProSerGlySerThrPheIleHisProLeuThrGlyLysProLeuAspProSerSerProLeuAlaLeuAlaLeuAlaAlaArgGluArgAlaLeuAlaSerGlnAlaProSerArgSerProThrProValHisSerProAspAlaAspArgProGlyProLeuPheValAspValGlnAlaArgAspProGluArgGlySerLeuAlaSerProAlaPheSerProArgSerProAlaTrpIleProValProAlaArgArgGluAlaGluLysValProArgGluGluArgLysSerProGluAspLysLysSerMetIleLeuSerValLeuAspThrSerLeuGlnArgProAlaGlyLeuIleValValHisAlaThrSerAsnGlyGlnGluProSerArgLeuGlyGlyAlaGluGluGluArgProGlyThrProGluLeuAlaProAlaProMetGlnSerAlaAlaValAlaGluProLeuProSerProArgAlaGlnProProGlyGlyThrProAlaAspAlaGlyProGlyGlnGlySerSerGluGluGluProGluLeuValPheAlaValAsnLeuProProAlaGlnLeuSerSerSerAspGluGluThrArgGluGluLeuAlaArgIleGlyLeuValProProProGluGluPheAlaAsnGlyValLeuLeuAlaThrProLeuAlaGlyProGlyProSerProThrThrValProSerProAlaSerGlyLysProSerSerGluProProProAlaProGluSerAlaAlaAspSerGlyValGluGluAlaAspThrArgSerSerSerAspProHisLeuGluThrThrSerThrIleSerThrValSerSerMetSerThrLeuSerSerGluSerGlyGluLeuThrAspThrHisThrSerPheAlaAspGlyHisThrPheLeuLeuGluLysProProValProProLysProLysLeuLysSerProLeuGlyLysGlyProValThrPheArgAspProLeuLeuLysGlnSerSerAspSerGluLeuMetAlaGlnGlnHisHisAlaAlaSerAlaGlyLeuAlaSerAlaAlaGlyProAlaArgProArgTyrLeuPheGlnArgArgSerLysLeuTrpGlyAspProValGluSerArgGlyLeuProGlyProGluAspAspLysProThrValIleSerGluLeuSerSerArgLeuGlnGlnLeuAsnLysAspThrArgSerLeuGlyGluGluProValGlyGlyLeuGlySerLeuLeuAspProAlaLysLysSerProIleAlaAlaAlaArgCysArgSerProMetValGlyLeuArgLeuPheSerSerLeuGlyGluLeuSerSerIleSerAlaGlnArgSerProGlyGlyProGlyGlyGlyAlaSerTyrSerValArgProSerGlyArgTyrProValAlaArgArgAlaProSerProValLysProAlaSerLeuGluArgValGluGlyLeuGlyAlaGlyAlaGlyGlyAlaGlyArgProPheGlyLeuThrProProThrIleLeuLysSerSerSerLeuSerIleProHisGluProLysGluValArgPheValValArgSerValSerAlaArgSerArgSerProSerProSerProLeuProSerProAlaSerGlyProGlyProGlyAlaProGlyProArgArgProPheGlnGlnLysProLeuGlnLeuTrpSerLysPheAspValGlyAspTrpLeuGluSerIleHisLeuGlyGluHisArgAspArgPheGluAspHisGluIleGluGlyAlaHisLeuProAlaLeuThrLysAspAspPheValGluLeuGlyValThrArgValGlyHisArgMetAsnIleGluArgAlaLeuArgGlnLeuAspGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906525"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3494,
          "referenceAllele": "C",
          "start": 3493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014294",
      "geneNCBI_id": 85358,
      "geneSymbol": "SHANK3",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501192.1:n.*1212C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS906548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000489407.2:p.Tyr422_Ser1291delinsGluProGlyAlaAlaLeuGlyProLeuProTyrProGluArgGlnLysArgAlaArgSerMetIleIleLeuGlnAspSerAlaProGluSerGlyAspAlaProArgProProProAlaAlaThrProProGluArgProLysArgArgProArgProProGlyProAspSerProTyrAlaAsnLeuGlyAlaPheSerAlaSerLeuPheAlaProSerLysProGlnArgArgLysSerProLeuValLysGlnLeuGlnValGluAspAlaGlnGluArgAlaAlaLeuAlaValGlySerProGlyProGlyGlyGlySerPheAlaArgGluProSerProThrHisArgGlyProArgProGlyGlyLeuAspTyrGlyAlaGlyAspGlyProGlyLeuAlaPheGlyGlyProGlyProAlaLysAspArgArgLeuGluGluArgArgArgSerThrValPheLeuSerValGlyAlaIleGluGlySerAlaProGlyAlaAspLeuProSerLeuGlnProSerArgSerIleAspGluArgLeuLeuGlyThrGlyProThrAlaGlyArgAspLeuLeuLeuProSerProValSerAlaLeuLysProLeuValSerGlyProSerLeuGlyProSerGlySerThrPheIleHisProLeuThrGlyLysProLeuAspProSerSerProLeuAlaLeuAlaLeuAlaAlaArgGluArgAlaLeuAlaSerGlnAlaProSerArgSerProThrProValHisSerProAspAlaAspArgProGlyProLeuPheValAspValGlnAlaArgAspProGluArgGlySerLeuAlaSerProAlaPheSerProArgSerProAlaTrpIleProValProAlaArgArgGluAlaGluLysValProArgGluGluArgLysSerProGluAspLysLysSerMetIleLeuSerValLeuAspThrSerLeuGlnArgProAlaGlyLeuIleValValHisAlaThrSerAsnGlyGlnGluProSerArgLeuGlyGlyAlaGluGluGluArgProGlyThrProGluLeuAlaProAlaProMetGlnSerAlaAlaValAlaGluProLeuProSerProArgAlaGlnProProGlyGlyThrProAlaAspAlaGlyProGlyGlnGlySerSerGluGluGluProGluLeuValPheAlaValAsnLeuProProAlaGlnLeuSerSerSerAspGluGluThrArgGluGluLeuAlaArgIleGlyLeuValProProProGluGluPheAlaAsnGlyValLeuLeuAlaThrProLeuAlaGlyProGlyProSerProThrThrValProSerProAlaSerGlyLysProSerSerGluProProProAlaProGluSerAlaAlaAspSerGlyValGluGluAlaAspThrArgSerSerSerAspProHisLeuGluThrThrSerThrIleSerThrValSerSerMetSerThrLeuSerSerGluSerGlyGluLeuThrAspThrHisThrSerPheAlaAspGlyHisThrPheLeuLeuGluLysProProValProProLysProLysLeuLysSerProLeuGlyLysGlyProValThrPheArgAspProLeuLeuLysGlnSerSerAspSerGluLeuMetAlaGlnGlnHisHisAlaAlaSerAlaGlyLeuAlaSerAlaAlaGlyProAlaArgProArgTyrLeuPheGlnArgArgSerLysLeuTrpGlyAspProValGluSerArgGlyLeuProGlyProGluAspAspLysProThrValIleSerGluLeuSerSerArgLeuGlnGlnLeuAsnLysAspThrArgSerLeuGlyGluGluProValGlyGlyLeuGlySerLeuLeuAspProAlaLysLysSerProIleAlaAlaAlaArgCysArgSerProMetValGlyLeuArgLeuPheSerSerLeuGlyGluLeuSerSerIleSerAlaGlnArgSerProGlyGlyProGlyGlyGlyAlaSerTyrSerValArgProSerGlyArgTyrProValAlaArgArgAlaProSerProValLysProAlaSerLeuGluArgValGluGlyLeuGlyAlaGlyAlaGlyGlyAlaGlyArgProPheGlyLeuThrProProThrIleLeuLysSerSerSerLeuSerIleProHisGluProLysGluValArgPheValValArgSerValSerAlaArgSerArgSerProSerProSerProLeuProSerProAlaSerGlyProGlyProGlyAlaProGlyProArgArgProPheGlnGlnLysProLeuGlnLeuTrpSerLysPheAspValGlyAspTrpLeuGluSerIleHisLeuGlyGluHisArgAspArgPheGluAspHisGluIleGluGlyAlaHisLeuProAlaLeuThrLysAspAspPheValGluLeuGlyValThrArgValGlyHisArgMetAsnIleGluArgAlaLeuArgGlnLeuAspGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824961"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "C",
          "start": 2663
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      ],
      "gene": "http://reg.genome.network/gene/GN014294",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000489147.2:p.Tyr738Ter",
        "hgvsWellDefined": "ENSP00000489147.2:p.Tyr738_Ser1607delinsGluProGlyAlaAlaLeuGlyProLeuProTyrProGluArgGlnLysArgAlaArgSerMetIleIleLeuGlnAspSerAlaProGluSerGlyAspAlaProArgProProProAlaAlaThrProProGluArgProLysArgArgProArgProProGlyProAspSerProTyrAlaAsnLeuGlyAlaPheSerAlaSerLeuPheAlaProSerLysProGlnArgArgLysSerProLeuValLysGlnLeuGlnValGluAspAlaGlnGluArgAlaAlaLeuAlaValGlySerProGlyProGlyGlyGlySerPheAlaArgGluProSerProThrHisArgGlyProArgProGlyGlyLeuAspTyrGlyAlaGlyAspGlyProGlyLeuAlaPheGlyGlyProGlyProAlaLysAspArgArgLeuGluGluArgArgArgSerThrValPheLeuSerValGlyAlaIleGluGlySerAlaProGlyAlaAspLeuProSerLeuGlnProSerArgSerIleAspGluArgLeuLeuGlyThrGlyProThrAlaGlyArgAspLeuLeuLeuProSerProValSerAlaLeuLysProLeuValSerGlyProSerLeuGlyProSerGlySerThrPheIleHisProLeuThrGlyLysProLeuAspProSerSerProLeuAlaLeuAlaLeuAlaAlaArgGluArgAlaLeuAlaSerGlnAlaProSerArgSerProThrProValHisSerProAspAlaAspArgProGlyProLeuPheValAspValGlnAlaArgAspProGluArgGlySerLeuAlaSerProAlaPheSerProArgSerProAlaTrpIleProValProAlaArgArgGluAlaGluLysValProArgGluGluArgLysSerProGluAspLysLysSerMetIleLeuSerValLeuAspThrSerLeuGlnArgProAlaGlyLeuIleValValHisAlaThrSerAsnGlyGlnGluProSerArgLeuGlyGlyAlaGluGluGluArgProGlyThrProGluLeuAlaProAlaProMetGlnSerAlaAlaValAlaGluProLeuProSerProArgAlaGlnProProGlyGlyThrProAlaAspAlaGlyProGlyGlnGlySerSerGluGluGluProGluLeuValPheAlaValAsnLeuProProAlaGlnLeuSerSerSerAspGluGluThrArgGluGluLeuAlaArgIleGlyLeuValProProProGluGluPheAlaAsnGlyValLeuLeuAlaThrProLeuAlaGlyProGlyProSerProThrThrValProSerProAlaSerGlyLysProSerSerGluProProProAlaProGluSerAlaAlaAspSerGlyValGluGluAlaAspThrArgSerSerSerAspProHisLeuGluThrThrSerThrIleSerThrValSerSerMetSerThrLeuSerSerGluSerGlyGluLeuThrAspThrHisThrSerPheAlaAspGlyHisThrPheLeuLeuGluLysProProValProProLysProLysLeuLysSerProLeuGlyLysGlyProValThrPheArgAspProLeuLeuLysGlnSerSerAspSerGluLeuMetAlaGlnGlnHisHisAlaAlaSerAlaGlyLeuAlaSerAlaAlaGlyProAlaArgProArgTyrLeuPheGlnArgArgSerLysLeuTrpGlyAspProValGluSerArgGlyLeuProGlyProGluAspAspLysProThrValIleSerGluLeuSerSerArgLeuGlnGlnLeuAsnLysAspThrArgSerLeuGlyGluGluProValGlyGlyLeuGlySerLeuLeuAspProAlaLysLysSerProIleAlaAlaAlaArgCysArgSerProMetValGlyLeuArgLeuPheSerSerLeuGlyGluLeuSerSerIleSerAlaGlnArgSerProGlyGlyProGlyGlyGlyAlaSerTyrSerValArgProSerGlyArgTyrProValAlaArgArgAlaProSerProValLysProAlaSerLeuGluArgValGluGlyLeuGlyAlaGlyAlaGlyGlyAlaGlyArgProPheGlyLeuThrProProThrIleLeuLysSerSerSerLeuSerIleProHisGluProLysGluValArgPheValValArgSerValSerAlaArgSerArgSerProSerProSerProLeuProSerProAlaSerGlyProGlyProGlyAlaProGlyProArgArgProPheGlnGlnLysProLeuGlnLeuTrpSerLysPheAspValGlyAspTrpLeuGluSerIleHisLeuGlyGluHisArgAspArgPheGluAspHisGluIleGluGlyAlaHisLeuProAlaLeuThrLysAspAspPheValGluLeuGlyValThrArgValGlyHisArgMetAsnIleGluArgAlaLeuArgGlnLeuAspGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742397"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "C",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014294",
      "geneNCBI_id": 85358,
      "geneSymbol": "SHANK3",
      "hgvs": [
        "ENST00000664402.1:c.756C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499475.1:p.Tyr252Ter",
        "hgvsWellDefined": "ENSP00000499475.1:p.Tyr252_Ser1121delinsGluProGlyAlaAlaLeuGlyProLeuProTyrProGluArgGlnLysArgAlaArgSerMetIleIleLeuGlnAspSerAlaProGluSerGlyAspAlaProArgProProProAlaAlaThrProProGluArgProLysArgArgProArgProProGlyProAspSerProTyrAlaAsnLeuGlyAlaPheSerAlaSerLeuPheAlaProSerLysProGlnArgArgLysSerProLeuValLysGlnLeuGlnValGluAspAlaGlnGluArgAlaAlaLeuAlaValGlySerProGlyProGlyGlyGlySerPheAlaArgGluProSerProThrHisArgGlyProArgProGlyGlyLeuAspTyrGlyAlaGlyAspGlyProGlyLeuAlaPheGlyGlyProGlyProAlaLysAspArgArgLeuGluGluArgArgArgSerThrValPheLeuSerValGlyAlaIleGluGlySerAlaProGlyAlaAspLeuProSerLeuGlnProSerArgSerIleAspGluArgLeuLeuGlyThrGlyProThrAlaGlyArgAspLeuLeuLeuProSerProValSerAlaLeuLysProLeuValSerGlyProSerLeuGlyProSerGlySerThrPheIleHisProLeuThrGlyLysProLeuAspProSerSerProLeuAlaLeuAlaLeuAlaAlaArgGluArgAlaLeuAlaSerGlnAlaProSerArgSerProThrProValHisSerProAspAlaAspArgProGlyProLeuPheValAspValGlnAlaArgAspProGluArgGlySerLeuAlaSerProAlaPheSerProArgSerProAlaTrpIleProValProAlaArgArgGluAlaGluLysValProArgGluGluArgLysSerProGluAspLysLysSerMetIleLeuSerValLeuAspThrSerLeuGlnArgProAlaGlyLeuIleValValHisAlaThrSerAsnGlyGlnGluProSerArgLeuGlyGlyAlaGluGluGluArgProGlyThrProGluLeuAlaProAlaProMetGlnSerAlaAlaValAlaGluProLeuProSerProArgAlaGlnProProGlyGlyThrProAlaAspAlaGlyProGlyGlnGlySerSerGluGluGluProGluLeuValPheAlaValAsnLeuProProAlaGlnLeuSerSerSerAspGluGluThrArgGluGluLeuAlaArgIleGlyLeuValProProProGluGluPheAlaAsnGlyValLeuLeuAlaThrProLeuAlaGlyProGlyProSerProThrThrValProSerProAlaSerGlyLysProSerSerGluProProProAlaProGluSerAlaAlaAspSerGlyValGluGluAlaAspThrArgSerSerSerAspProHisLeuGluThrThrSerThrIleSerThrValSerSerMetSerThrLeuSerSerGluSerGlyGluLeuThrAspThrHisThrSerPheAlaAspGlyHisThrPheLeuLeuGluLysProProValProProLysProLysLeuLysSerProLeuGlyLysGlyProValThrPheArgAspProLeuLeuLysGlnSerSerAspSerGluLeuMetAlaGlnGlnHisHisAlaAlaSerAlaGlyLeuAlaSerAlaAlaGlyProAlaArgProArgTyrLeuPheGlnArgArgSerLysLeuTrpGlyAspProValGluSerArgGlyLeuProGlyProGluAspAspLysProThrValIleSerGluLeuSerSerArgLeuGlnGlnLeuAsnLysAspThrArgSerLeuGlyGluGluProValGlyGlyLeuGlySerLeuLeuAspProAlaLysLysSerProIleAlaAlaAlaArgCysArgSerProMetValGlyLeuArgLeuPheSerSerLeuGlyGluLeuSerSerIleSerAlaGlnArgSerProGlyGlyProGlyGlyGlyAlaSerTyrSerValArgProSerGlyArgTyrProValAlaArgArgAlaProSerProValLysProAlaSerLeuGluArgValGluGlyLeuGlyAlaGlyAlaGlyGlyAlaGlyArgProPheGlyLeuThrProProThrIleLeuLysSerSerSerLeuSerIleProHisGluProLysGluValArgPheValValArgSerValSerAlaArgSerArgSerProSerProSerProLeuProSerProAlaSerGlyProGlyProGlyAlaProGlyProArgArgProPheGlnGlnLysProLeuGlnLeuTrpSerLysPheAspValGlyAspTrpLeuGluSerIleHisLeuGlyGluHisArgAspArgPheGluAspHisGluIleGluGlyAlaHisLeuProAlaLeuThrLysAspAspPheValGluLeuGlyValThrArgValGlyHisArgMetAsnIleGluArgAlaLeuArgGlnLeuAspGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3494,
          "referenceAllele": "C",
          "start": 3493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014294",
      "geneNCBI_id": 85358,
      "geneSymbol": "SHANK3",
      "hgvs": [
        "ENST00000673971.1:c.*1212C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501192.1:n.*1212C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2610,
          "referenceAllele": "C",
          "start": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014294",
      "geneNCBI_id": 85358,
      "geneSymbol": "SHANK3",
      "hgvs": [
        "ENST00000262795.5:c.2610C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489147.1:p.Tyr870Ter",
        "hgvsWellDefined": "ENSP00000489147.1:p.Tyr870_Ser1730delinsGluProGlyAlaAlaLeuGlyProLeuProTyrProGluArgGlnLysArgAlaArgSerMetIleIleLeuGlnAspSerAlaProGluSerGlyAspAlaProArgProProProAlaAlaThrProProGluArgProLysArgArgProArgProProGlyProAspSerProTyrAlaAsnLeuGlyAlaPheSerAlaSerLeuPheAlaProSerLysProGlnArgArgLysSerProLeuValLysGlnLeuGlnValGluAspAlaGlnGluArgAlaAlaLeuAlaValGlySerProGlyProGlyGlyGlySerPheAlaArgGluProSerProThrHisArgGlyProArgProGlyGlyLeuAspTyrGlyAlaGlyAspGlyProGlyLeuAlaPheGlyGlyProGlyProAlaLysAspArgArgLeuGluGluArgArgArgSerThrValPheLeuSerValGlyAlaIleGluGlySerAlaProGlyAlaAspLeuProSerLeuGlnProSerArgSerIleAspGluArgLeuLeuGlyThrGlyProThrAlaGlyArgAspLeuLeuLeuProSerProValSerAlaLeuLysProLeuValSerGlyProSerLeuGlyProSerGlySerThrPheIleHisProLeuThrGlyLysProLeuAspProSerSerProLeuAlaLeuAlaLeuAlaAlaArgGluArgAlaLeuAlaSerGlnAlaProSerArgSerProThrProValHisSerProAspAlaAspArgProGlyProLeuPheValAspValGlnAlaArgAspProGluArgGlySerLeuAlaSerProAlaPheSerProArgSerProAlaTrpIleProValProAlaArgArgGluAlaGluLysValProArgGluGluArgLysSerProGluAspLysLysSerMetIleLeuSerValLeuAspThrSerLeuGlnArgProAlaGlyLeuIleValValHisAlaThrSerAsnGlyGlnGluProSerArgLeuGlyGlyAlaGluGluGluArgProGlyThrProGluLeuAlaProAlaProMetGlnSerAlaAlaValAlaGluProLeuProSerProArgAlaGlnProProGlyGlyThrProAlaAspAlaGlyProGlyGlnGlySerSerGluGluGluProGluLeuValPheAlaValAsnLeuProProAlaGlnLeuSerSerSerAspGluGluThrArgGluGluLeuAlaArgIleGlyLeuValProProProGluGluPheAlaAsnGlyValLeuLeuAlaThrProLeuAlaGlyProGlyProSerProThrThrValProSerProAlaSerGlyLysProSerSerGluProProProAlaProGluSerAlaAlaAspSerGlyValGluGluAlaAspThrArgSerSerSerAspProHisLeuGluThrThrSerThrIleSerThrValSerSerMetSerThrLeuSerSerGluSerGlyGluLeuThrAspThrHisThrSerPheAlaAspGlyHisThrPheLeuLeuGluLysProProValProProLysProLysLeuLysSerProLeuGlyLysGlyProValThrPheArgAspProLeuLeuLysGlnSerSerAspSerGluLeuMetAlaGlnGlnHisHisAlaAlaSerAlaGlyLeuAlaSerAlaAlaGlyProAlaArgProArgTyrLeuPheGlnArgArgSerLysLeuTrpGlyAspProValGluSerArgGlyLeuProGlyProGluAspAspLysProThrValIleSerGluLeuSerSerArgLeuGlnGlnLeuAsnLysAspThrArgSerLeuGlyGluGluProValGlyGlyLeuGlySerLeuLeuAspProAlaLysLysSerProIleAlaAlaAlaArgLeuPheSerSerLeuGlyGluLeuSerSerIleSerAlaGlnArgSerProGlyGlyProGlyGlyGlyAlaSerTyrSerValArgProSerGlyArgTyrProValAlaArgArgAlaProSerProValLysProAlaSerLeuGluArgValGluGlyLeuGlyAlaGlyAlaGlyGlyAlaGlyArgProPheGlyLeuThrProProThrIleLeuLysSerSerSerLeuSerIleProHisGluProLysGluValArgPheValValArgSerValSerAlaArgSerArgSerProSerProSerProLeuProSerProAlaSerGlyProGlyProGlyAlaProGlyProArgArgProPheGlnGlnLysProLeuGlnLeuTrpSerLysPheAspValGlyAspTrpLeuGluSerIleHisLeuGlyGluHisArgAspArgPheGluAspHisGluIleGluGlyAlaHisLeuProAlaLeuThrLysAspAspPheValGluLeuGlyValThrArgValGlyHisArgMetAsnIleGluArgAlaLeuArgGlnLeuAspGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2798,
          "referenceAllele": "C",
          "start": 2797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014294",
      "geneNCBI_id": 85358,
      "geneSymbol": "SHANK3",
      "hgvs": [
        "ENST00000414786.6:n.2798C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS283686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2592,
          "referenceAllele": "C",
          "start": 2591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014294",
      "geneNCBI_id": 85358,
      "geneSymbol": "SHANK3",
      "hgvs": [
        "ENST00000445220.5:c.2592C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489407.1:p.Tyr864Ter",
        "hgvsWellDefined": "ENSP00000489407.1:p.Tyr864_Ser1724delinsGluProGlyAlaAlaLeuGlyProLeuProTyrProGluArgGlnLysArgAlaArgSerMetIleIleLeuGlnAspSerAlaProGluSerGlyAspAlaProArgProProProAlaAlaThrProProGluArgProLysArgArgProArgProProGlyProAspSerProTyrAlaAsnLeuGlyAlaPheSerAlaSerLeuPheAlaProSerLysProGlnArgArgLysSerProLeuValLysGlnLeuGlnValGluAspAlaGlnGluArgAlaAlaLeuAlaValGlySerProGlyProGlyGlyGlySerPheAlaArgGluProSerProThrHisArgGlyProArgProGlyGlyLeuAspTyrGlyAlaGlyAspGlyProGlyLeuAlaPheGlyGlyProGlyProAlaLysAspArgArgLeuGluGluArgArgArgSerThrValPheLeuSerValGlyAlaIleGluGlySerAlaProGlyAlaAspLeuProSerLeuGlnProSerArgSerIleAspGluArgLeuLeuGlyThrGlyProThrAlaGlyArgAspLeuLeuLeuProSerProValSerAlaLeuLysProLeuValSerGlyProSerLeuGlyProSerGlySerThrPheIleHisProLeuThrGlyLysProLeuAspProSerSerProLeuAlaLeuAlaLeuAlaAlaArgGluArgAlaLeuAlaSerGlnAlaProSerArgSerProThrProValHisSerProAspAlaAspArgProGlyProLeuPheValAspValGlnAlaArgAspProGluArgGlySerLeuAlaSerProAlaPheSerProArgSerProAlaTrpIleProValProAlaArgArgGluAlaGluLysValProArgGluGluArgLysSerProGluAspLysLysSerMetIleLeuSerValLeuAspThrSerLeuGlnArgProAlaGlyLeuIleValValHisAlaThrSerAsnGlyGlnGluProSerArgLeuGlyGlyAlaGluGluGluArgProGlyThrProGluLeuAlaProAlaProMetGlnSerAlaAlaValAlaGluProLeuProSerProArgAlaGlnProProGlyGlyThrProAlaAspAlaGlyProGlyGlnGlySerSerGluGluGluProGluLeuValPheAlaValAsnLeuProProAlaGlnLeuSerSerSerAspGluGluThrArgGluGluLeuAlaArgIleGlyLeuValProProProGluGluPheAlaAsnGlyValLeuLeuAlaThrProLeuAlaGlyProGlyProSerProThrThrValProSerProAlaSerGlyLysProSerSerGluProProProAlaProGluSerAlaAlaAspSerGlyValGluGluAlaAspThrArgSerSerSerAspProHisLeuGluThrThrSerThrIleSerThrValSerSerMetSerThrLeuSerSerGluSerGlyGluLeuThrAspThrHisThrSerPheAlaAspGlyHisThrPheLeuLeuGluLysProProValProProLysProLysLeuLysSerProLeuGlyLysGlyProValThrPheArgAspProLeuLeuLysGlnSerSerAspSerGluLeuMetAlaGlnGlnHisHisAlaAlaSerAlaGlyLeuAlaSerAlaAlaGlyProAlaArgProArgTyrLeuPheGlnArgArgSerLysLeuTrpGlyAspProValGluSerArgGlyLeuProGlyProGluAspAspLysProThrValIleSerGluLeuSerSerArgLeuGlnGlnLeuAsnLysAspThrArgSerLeuGlyGluGluProValGlyGlyLeuGlySerLeuLeuAspProAlaLysLysSerProIleAlaAlaAlaArgLeuPheSerSerLeuGlyGluLeuSerSerIleSerAlaGlnArgSerProGlyGlyProGlyGlyGlyAlaSerTyrSerValArgProSerGlyArgTyrProValAlaArgArgAlaProSerProValLysProAlaSerLeuGluArgValGluGlyLeuGlyAlaGlyAlaGlyGlyAlaGlyArgProPheGlyLeuThrProProThrIleLeuLysSerSerSerLeuSerIleProHisGluProLysGluValArgPheValValArgSerValSerAlaArgSerArgSerProSerProSerProLeuProSerProAlaSerGlyProGlyProGlyAlaProGlyProArgArgProPheGlnGlnLysProLeuGlnLeuTrpSerLysPheAspValGlyAspTrpLeuGluSerIleHisLeuGlyGluHisArgAspArgPheGluAspHisGluIleGluGlyAlaHisLeuProAlaLeuThrLysAspAspPheValGluLeuGlyValThrArgValGlyHisArgMetAsnIleGluArgAlaLeuArgGlnLeuAspGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298187"
    }
  ],
  "type": "nucleotide"
}