{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA314116",
  "communityStandardTitle": [
    "NM_014141.6(CNTNAP2):c.1346C>G (p.Ser449Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202055[alleleid]",
        "alleleId": 202055,
        "preferredName": "NM_014141.6(CNTNAP2):c.1346C>G (p.Ser449Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/205241",
        "RCV": [
          "RCV000187182"
        ],
        "variationId": 205241
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.146829599C>G?assembly=hg19",
        "id": "chr7:g.146829599C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.147132507C>G?assembly=hg38",
        "id": "chr7:g.147132507C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796052374",
        "rs": 796052374
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-147132507-C-G?dataset=gnomad_r4",
        "id": "7-147132507-C-G",
        "variant": "7:147132507 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 147132507,
          "referenceAllele": "C",
          "start": 147132506
        }
      ],
      "hgvs": [
        "NC_000007.14:g.147132507C>G",
        "CM000669.2:g.147132507C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 146829599,
          "referenceAllele": "C",
          "start": 146829598
        }
      ],
      "hgvs": [
        "NC_000007.13:g.146829599C>G",
        "CM000669.1:g.146829599C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 146460532,
          "referenceAllele": "C",
          "start": 146460531
        }
      ],
      "hgvs": [
        "NC_000007.12:g.146460532C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1021147,
          "referenceAllele": "C",
          "start": 1021146
        }
      ],
      "hgvs": [
        "NG_007092.2:g.1021147C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000472"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1021507,
          "referenceAllele": "C",
          "start": 1021506
        }
      ],
      "hgvs": [
        "NG_007092.3:g.1021507C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673478"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000361727.8:c.1346C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354778.3:p.Ser449Ter",
        "hgvsWellDefined": "ENSP00000354778.3:p.Ser449_Ile1331delinsGlySerGlyLeuAsnAspGlyGlnTrpHisGluValArgPheLeuAlaLysGluAsnPheAlaIleLeuThrIleAspGlyAspGluAlaSerAlaValArgThrAsnSerProLeuGlnValLysThrGlyGluLysTyrPhePheGlyGlyPheLeuAsnGlnMetAsnAsnSerSerHisSerValLeuGlnProSerPheGlnGlyCysMetGlnLeuIleGlnValAspAspGlnLeuValAsnLeuTyrGluValAlaGlnArgLysProGlySerPheAlaAsnValSerIleAspMetCysAlaIleIleAspArgCysValProAsnHisCysGluHisGlyGlyLysCysSerGlnThrTrpAspSerPheLysCysThrCysAspGluThrGlyTyrSerGlyAlaThrCysHisAsnSerIleTyrGluProSerCysGluAlaTyrLysHisLeuGlyGlnThrSerAsnTyrTyrTrpIleAspProAspGlySerGlyProLeuGlyProLeuLysValTyrCysAsnMetThrGluAspLysValTrpThrIleValSerHisAspLeuGlnMetGlnThrProValValGlyTyrAsnProGluLysTyrSerValThrGlnLeuValTyrSerAlaSerMetAspGlnIleSerAlaIleThrAspSerAlaGluTyrCysGluGlnTyrValSerTyrPheCysLysMetSerArgLeuLeuAsnThrProAspGlySerProTyrThrTrpTrpValGlyLysAlaAsnGluLysHisTyrTyrTrpGlyGlySerGlyProGlyIleGlnLysCysAlaCysGlyIleGluArgAsnCysThrAspProLysTyrTyrCysAsnCysAspAlaAspTyrLysGlnTrpArgLysAspAlaGlyPheLeuSerTyrLysAspHisLeuProValSerGlnValValValGlyAspThrAspArgGlnGlySerGluAlaLysLeuSerValGlyProLeuArgCysGlnGlyAspArgAsnTyrTrpAsnAlaAlaSerPheProAsnProSerSerTyrLeuHisPheSerThrPheGlnGlyGluThrSerAlaAspIleSerPheTyrPheLysThrLeuThrProTrpGlyValPheLeuGluAsnMetGlyLysGluAspPheIleLysLeuGluLeuLysSerAlaThrGluValSerPheSerPheAspValGlyAsnGlyProValGluIleValValArgSerProThrProLeuAsnAspAspGlnTrpHisArgValThrAlaGluArgAsnValLysGlnAlaSerLeuGlnValAspArgLeuProGlnGlnIleArgLysAlaProThrGluGlyHisThrArgLeuGluLeuTyrSerGlnLeuPheValGlyGlyAlaGlyGlyGlnGlnGlyPheLeuGlyCysIleArgSerLeuArgMetAsnGlyValThrLeuAspLeuGluGluArgAlaLysValThrSerGlyPheIleSerGlyCysSerGlyHisCysThrSerTyrGlyThrAsnCysGluAsnGlyGlyLysCysLeuGluArgTyrHisGlyTyrSerCysAspCysSerAsnThrAlaTyrAspGlyThrPheCysAsnLysAspValGlyAlaPhePheGluGluGlyMetTrpLeuArgTyrAsnPheGlnAlaProAlaThrAsnAlaArgAspSerSerSerArgValAspAsnAlaProAspGlnGlnAsnSerHisProAspLeuAlaGlnGluGluIleArgPheSerPheSerThrThrLysAlaProCysIleLeuLeuTyrIleSerSerPheThrThrAspPheLeuAlaValLeuValLysProThrGlySerLeuGlnIleArgTyrAsnLeuGlyGlyThrArgGluProTyrAsnIleAspValAspHisArgAsnMetAlaAsnGlyGlnProHisSerValAsnIleThrArgHisGluLysThrIlePheLeuLysLeuAspHisTyrProSerValSerTyrHisLeuProSerSerSerAspThrLeuPheAsnSerProLysSerLeuPheLeuGlyLysValIleGluThrGlyLysIleAspGlnGluIleHisLysTyrAsnThrProGlyPheThrGlyCysLeuSerArgValGlnPheAsnGlnIleAlaProLeuLysAlaAlaLeuArgGlnThrAsnAlaSerAlaHisValHisIleGlnGlyGluLeuValGluSerAsnCysGlyAlaSerProLeuThrLeuSerProMetSerSerAlaThrAspProTrpHisLeuAspHisLeuAspSerAlaSerAlaAspPheProTyrAsnProGlyGlnGlyGlnAlaIleArgAsnGlyValAsnArgAsnSerAlaIleIleGlyGlyValIleAlaValValIlePheThrIleLeuCysThrLeuValPheLeuIleArgTyrMetPheArgHisLysGlyThrTyrHisThrAsnGluAlaLysGlyAlaGluSerAlaGluSerAlaAspAlaAlaIleMetAsnAsnAspProAsnPheThrGluThrIleAspGluSerLysLysGluTrpLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749527",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361727.8:c.1346C>G"
          },
          "RefSeq": {
            "hgvs": "NM_014141.6:c.1346C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354778.3:p.Ser449Ter"
          },
          "RefSeq": {
            "hgvs": "NP_054860.1:p.Ser449Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1249,
          "referenceAllele": "C",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000636561.1:n.1249C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000636870.1:n.1208C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763445"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1275,
          "referenceAllele": "C",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000637150.1:n.1275C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1249,
          "referenceAllele": "C",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000637694.1:n.1249C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000637825.1:n.829C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764137"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1249,
          "referenceAllele": "C",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000638117.1:n.1249C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1864,
          "referenceAllele": "C",
          "start": 1863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000361727.7:c.1346C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354778.3:p.Ser449Ter",
        "hgvsWellDefined": "ENSP00000354778.3:p.Ser449_Ile1331delinsGlySerGlyLeuAsnAspGlyGlnTrpHisGluValArgPheLeuAlaLysGluAsnPheAlaIleLeuThrIleAspGlyAspGluAlaSerAlaValArgThrAsnSerProLeuGlnValLysThrGlyGluLysTyrPhePheGlyGlyPheLeuAsnGlnMetAsnAsnSerSerHisSerValLeuGlnProSerPheGlnGlyCysMetGlnLeuIleGlnValAspAspGlnLeuValAsnLeuTyrGluValAlaGlnArgLysProGlySerPheAlaAsnValSerIleAspMetCysAlaIleIleAspArgCysValProAsnHisCysGluHisGlyGlyLysCysSerGlnThrTrpAspSerPheLysCysThrCysAspGluThrGlyTyrSerGlyAlaThrCysHisAsnSerIleTyrGluProSerCysGluAlaTyrLysHisLeuGlyGlnThrSerAsnTyrTyrTrpIleAspProAspGlySerGlyProLeuGlyProLeuLysValTyrCysAsnMetThrGluAspLysValTrpThrIleValSerHisAspLeuGlnMetGlnThrProValValGlyTyrAsnProGluLysTyrSerValThrGlnLeuValTyrSerAlaSerMetAspGlnIleSerAlaIleThrAspSerAlaGluTyrCysGluGlnTyrValSerTyrPheCysLysMetSerArgLeuLeuAsnThrProAspGlySerProTyrThrTrpTrpValGlyLysAlaAsnGluLysHisTyrTyrTrpGlyGlySerGlyProGlyIleGlnLysCysAlaCysGlyIleGluArgAsnCysThrAspProLysTyrTyrCysAsnCysAspAlaAspTyrLysGlnTrpArgLysAspAlaGlyPheLeuSerTyrLysAspHisLeuProValSerGlnValValValGlyAspThrAspArgGlnGlySerGluAlaLysLeuSerValGlyProLeuArgCysGlnGlyAspArgAsnTyrTrpAsnAlaAlaSerPheProAsnProSerSerTyrLeuHisPheSerThrPheGlnGlyGluThrSerAlaAspIleSerPheTyrPheLysThrLeuThrProTrpGlyValPheLeuGluAsnMetGlyLysGluAspPheIleLysLeuGluLeuLysSerAlaThrGluValSerPheSerPheAspValGlyAsnGlyProValGluIleValValArgSerProThrProLeuAsnAspAspGlnTrpHisArgValThrAlaGluArgAsnValLysGlnAlaSerLeuGlnValAspArgLeuProGlnGlnIleArgLysAlaProThrGluGlyHisThrArgLeuGluLeuTyrSerGlnLeuPheValGlyGlyAlaGlyGlyGlnGlnGlyPheLeuGlyCysIleArgSerLeuArgMetAsnGlyValThrLeuAspLeuGluGluArgAlaLysValThrSerGlyPheIleSerGlyCysSerGlyHisCysThrSerTyrGlyThrAsnCysGluAsnGlyGlyLysCysLeuGluArgTyrHisGlyTyrSerCysAspCysSerAsnThrAlaTyrAspGlyThrPheCysAsnLysAspValGlyAlaPhePheGluGluGlyMetTrpLeuArgTyrAsnPheGlnAlaProAlaThrAsnAlaArgAspSerSerSerArgValAspAsnAlaProAspGlnGlnAsnSerHisProAspLeuAlaGlnGluGluIleArgPheSerPheSerThrThrLysAlaProCysIleLeuLeuTyrIleSerSerPheThrThrAspPheLeuAlaValLeuValLysProThrGlySerLeuGlnIleArgTyrAsnLeuGlyGlyThrArgGluProTyrAsnIleAspValAspHisArgAsnMetAlaAsnGlyGlnProHisSerValAsnIleThrArgHisGluLysThrIlePheLeuLysLeuAspHisTyrProSerValSerTyrHisLeuProSerSerSerAspThrLeuPheAsnSerProLysSerLeuPheLeuGlyLysValIleGluThrGlyLysIleAspGlnGluIleHisLysTyrAsnThrProGlyPheThrGlyCysLeuSerArgValGlnPheAsnGlnIleAlaProLeuLysAlaAlaLeuArgGlnThrAsnAlaSerAlaHisValHisIleGlnGlyGluLeuValGluSerAsnCysGlyAlaSerProLeuThrLeuSerProMetSerSerAlaThrAspProTrpHisLeuAspHisLeuAspSerAlaSerAlaAspPheProTyrAsnProGlyGlnGlyGlnAlaIleArgAsnGlyValAsnArgAsnSerAlaIleIleGlyGlyValIleAlaValValIlePheThrIleLeuCysThrLeuValPheLeuIleArgTyrMetPheArgHisLysGlyThrTyrHisThrAsnGluAlaLysGlyAlaGluSerAlaGluSerAlaAspAlaAlaIleMetAsnAsnAspProAsnPheThrGluThrIleAspGluSerLysLysGluTrpLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265625"
    },
    {
      "@id": "http://reg.genome.network/allele/PA314117",
      "coordinates": [
        {
          "allele": "G",
          "end": 1862,
          "referenceAllele": "C",
          "start": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "NM_014141.5:c.1346C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_054860.1:p.Ser449Ter",
        "hgvsWellDefined": "NP_054860.1:p.Ser449_Ile1331delinsGlySerGlyLeuAsnAspGlyGlnTrpHisGluValArgPheLeuAlaLysGluAsnPheAlaIleLeuThrIleAspGlyAspGluAlaSerAlaValArgThrAsnSerProLeuGlnValLysThrGlyGluLysTyrPhePheGlyGlyPheLeuAsnGlnMetAsnAsnSerSerHisSerValLeuGlnProSerPheGlnGlyCysMetGlnLeuIleGlnValAspAspGlnLeuValAsnLeuTyrGluValAlaGlnArgLysProGlySerPheAlaAsnValSerIleAspMetCysAlaIleIleAspArgCysValProAsnHisCysGluHisGlyGlyLysCysSerGlnThrTrpAspSerPheLysCysThrCysAspGluThrGlyTyrSerGlyAlaThrCysHisAsnSerIleTyrGluProSerCysGluAlaTyrLysHisLeuGlyGlnThrSerAsnTyrTyrTrpIleAspProAspGlySerGlyProLeuGlyProLeuLysValTyrCysAsnMetThrGluAspLysValTrpThrIleValSerHisAspLeuGlnMetGlnThrProValValGlyTyrAsnProGluLysTyrSerValThrGlnLeuValTyrSerAlaSerMetAspGlnIleSerAlaIleThrAspSerAlaGluTyrCysGluGlnTyrValSerTyrPheCysLysMetSerArgLeuLeuAsnThrProAspGlySerProTyrThrTrpTrpValGlyLysAlaAsnGluLysHisTyrTyrTrpGlyGlySerGlyProGlyIleGlnLysCysAlaCysGlyIleGluArgAsnCysThrAspProLysTyrTyrCysAsnCysAspAlaAspTyrLysGlnTrpArgLysAspAlaGlyPheLeuSerTyrLysAspHisLeuProValSerGlnValValValGlyAspThrAspArgGlnGlySerGluAlaLysLeuSerValGlyProLeuArgCysGlnGlyAspArgAsnTyrTrpAsnAlaAlaSerPheProAsnProSerSerTyrLeuHisPheSerThrPheGlnGlyGluThrSerAlaAspIleSerPheTyrPheLysThrLeuThrProTrpGlyValPheLeuGluAsnMetGlyLysGluAspPheIleLysLeuGluLeuLysSerAlaThrGluValSerPheSerPheAspValGlyAsnGlyProValGluIleValValArgSerProThrProLeuAsnAspAspGlnTrpHisArgValThrAlaGluArgAsnValLysGlnAlaSerLeuGlnValAspArgLeuProGlnGlnIleArgLysAlaProThrGluGlyHisThrArgLeuGluLeuTyrSerGlnLeuPheValGlyGlyAlaGlyGlyGlnGlnGlyPheLeuGlyCysIleArgSerLeuArgMetAsnGlyValThrLeuAspLeuGluGluArgAlaLysValThrSerGlyPheIleSerGlyCysSerGlyHisCysThrSerTyrGlyThrAsnCysGluAsnGlyGlyLysCysLeuGluArgTyrHisGlyTyrSerCysAspCysSerAsnThrAlaTyrAspGlyThrPheCysAsnLysAspValGlyAlaPhePheGluGluGlyMetTrpLeuArgTyrAsnPheGlnAlaProAlaThrAsnAlaArgAspSerSerSerArgValAspAsnAlaProAspGlnGlnAsnSerHisProAspLeuAlaGlnGluGluIleArgPheSerPheSerThrThrLysAlaProCysIleLeuLeuTyrIleSerSerPheThrThrAspPheLeuAlaValLeuValLysProThrGlySerLeuGlnIleArgTyrAsnLeuGlyGlyThrArgGluProTyrAsnIleAspValAspHisArgAsnMetAlaAsnGlyGlnProHisSerValAsnIleThrArgHisGluLysThrIlePheLeuLysLeuAspHisTyrProSerValSerTyrHisLeuProSerSerSerAspThrLeuPheAsnSerProLysSerLeuPheLeuGlyLysValIleGluThrGlyLysIleAspGlnGluIleHisLysTyrAsnThrProGlyPheThrGlyCysLeuSerArgValGlnPheAsnGlnIleAlaProLeuLysAlaAlaLeuArgGlnThrAsnAlaSerAlaHisValHisIleGlnGlyGluLeuValGluSerAsnCysGlyAlaSerProLeuThrLeuSerProMetSerSerAlaThrAspProTrpHisLeuAspHisLeuAspSerAlaSerAlaAspPheProTyrAsnProGlyGlnGlyGlnAlaIleArgAsnGlyValAsnArgAsnSerAlaIleIleGlyGlyValIleAlaValValIlePheThrIleLeuCysThrLeuValPheLeuIleArgTyrMetPheArgHisLysGlyThrTyrHisThrAsnGluAlaLysGlyAlaGluSerAlaGluSerAlaAspAlaAlaIleMetAsnAsnAspProAsnPheThrGluThrIleAspGluSerLysLysGluTrpLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2016,
          "referenceAllele": "C",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "XM_017011950.2:c.1346C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867439.1:p.Ser449Ter",
        "hgvsWellDefined": "XP_016867439.1:p.Ser449_Gly714delinsGlySerGlyLeuAsnAspGlyGlnTrpHisGluValArgPheLeuAlaLysGluAsnPheAlaIleLeuThrIleAspGlyAspGluAlaSerAlaValArgThrAsnSerProLeuGlnValLysThrGlyGluLysTyrPhePheGlyGlyPheLeuAsnGlnMetAsnAsnSerSerHisSerValLeuGlnProSerPheGlnGlyCysMetGlnLeuIleGlnValAspAspGlnLeuValAsnLeuTyrGluValAlaGlnArgLysProGlySerPheAlaAsnValSerIleAspMetCysAlaIleIleAspArgCysValProAsnHisCysGluHisGlyGlyLysCysSerGlnThrTrpAspSerPheLysCysThrCysAspGluThrGlyTyrSerGlyAlaThrCysHisAsnSerIleTyrGluProSerCysGluAlaTyrLysHisLeuGlyGlnThrSerAsnTyrTyrTrpIleAspProAspGlySerGlyProLeuGlyProLeuLysValTyrCysAsnMetThrGluAspLysValTrpThrIleValSerHisAspLeuGlnMetGlnThrProValValGlyTyrAsnProGluLysTyrSerValThrGlnLeuValTyrSerAlaSerMetAspGlnIleSerAlaIleThrAspSerAlaGluTyrCysGluGlnTyrValSerTyrPheCysLysMetSerArgLeuLeuAsnThrProGlyLeuLeuIleCysArgIleAlaAspAlaArgLysArgSerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565676"
    },
    {
      "@id": "http://reg.genome.network/allele/PA314117",
      "coordinates": [
        {
          "allele": "G",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "NM_014141.6:c.1346C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_054860.1:p.Ser449Ter",
        "hgvsWellDefined": "NP_054860.1:p.Ser449_Ile1331delinsGlySerGlyLeuAsnAspGlyGlnTrpHisGluValArgPheLeuAlaLysGluAsnPheAlaIleLeuThrIleAspGlyAspGluAlaSerAlaValArgThrAsnSerProLeuGlnValLysThrGlyGluLysTyrPhePheGlyGlyPheLeuAsnGlnMetAsnAsnSerSerHisSerValLeuGlnProSerPheGlnGlyCysMetGlnLeuIleGlnValAspAspGlnLeuValAsnLeuTyrGluValAlaGlnArgLysProGlySerPheAlaAsnValSerIleAspMetCysAlaIleIleAspArgCysValProAsnHisCysGluHisGlyGlyLysCysSerGlnThrTrpAspSerPheLysCysThrCysAspGluThrGlyTyrSerGlyAlaThrCysHisAsnSerIleTyrGluProSerCysGluAlaTyrLysHisLeuGlyGlnThrSerAsnTyrTyrTrpIleAspProAspGlySerGlyProLeuGlyProLeuLysValTyrCysAsnMetThrGluAspLysValTrpThrIleValSerHisAspLeuGlnMetGlnThrProValValGlyTyrAsnProGluLysTyrSerValThrGlnLeuValTyrSerAlaSerMetAspGlnIleSerAlaIleThrAspSerAlaGluTyrCysGluGlnTyrValSerTyrPheCysLysMetSerArgLeuLeuAsnThrProAspGlySerProTyrThrTrpTrpValGlyLysAlaAsnGluLysHisTyrTyrTrpGlyGlySerGlyProGlyIleGlnLysCysAlaCysGlyIleGluArgAsnCysThrAspProLysTyrTyrCysAsnCysAspAlaAspTyrLysGlnTrpArgLysAspAlaGlyPheLeuSerTyrLysAspHisLeuProValSerGlnValValValGlyAspThrAspArgGlnGlySerGluAlaLysLeuSerValGlyProLeuArgCysGlnGlyAspArgAsnTyrTrpAsnAlaAlaSerPheProAsnProSerSerTyrLeuHisPheSerThrPheGlnGlyGluThrSerAlaAspIleSerPheTyrPheLysThrLeuThrProTrpGlyValPheLeuGluAsnMetGlyLysGluAspPheIleLysLeuGluLeuLysSerAlaThrGluValSerPheSerPheAspValGlyAsnGlyProValGluIleValValArgSerProThrProLeuAsnAspAspGlnTrpHisArgValThrAlaGluArgAsnValLysGlnAlaSerLeuGlnValAspArgLeuProGlnGlnIleArgLysAlaProThrGluGlyHisThrArgLeuGluLeuTyrSerGlnLeuPheValGlyGlyAlaGlyGlyGlnGlnGlyPheLeuGlyCysIleArgSerLeuArgMetAsnGlyValThrLeuAspLeuGluGluArgAlaLysValThrSerGlyPheIleSerGlyCysSerGlyHisCysThrSerTyrGlyThrAsnCysGluAsnGlyGlyLysCysLeuGluArgTyrHisGlyTyrSerCysAspCysSerAsnThrAlaTyrAspGlyThrPheCysAsnLysAspValGlyAlaPhePheGluGluGlyMetTrpLeuArgTyrAsnPheGlnAlaProAlaThrAsnAlaArgAspSerSerSerArgValAspAsnAlaProAspGlnGlnAsnSerHisProAspLeuAlaGlnGluGluIleArgPheSerPheSerThrThrLysAlaProCysIleLeuLeuTyrIleSerSerPheThrThrAspPheLeuAlaValLeuValLysProThrGlySerLeuGlnIleArgTyrAsnLeuGlyGlyThrArgGluProTyrAsnIleAspValAspHisArgAsnMetAlaAsnGlyGlnProHisSerValAsnIleThrArgHisGluLysThrIlePheLeuLysLeuAspHisTyrProSerValSerTyrHisLeuProSerSerSerAspThrLeuPheAsnSerProLysSerLeuPheLeuGlyLysValIleGluThrGlyLysIleAspGlnGluIleHisLysTyrAsnThrProGlyPheThrGlyCysLeuSerArgValGlnPheAsnGlnIleAlaProLeuLysAlaAlaLeuArgGlnThrAsnAlaSerAlaHisValHisIleGlnGlyGluLeuValGluSerAsnCysGlyAlaSerProLeuThrLeuSerProMetSerSerAlaThrAspProTrpHisLeuAspHisLeuAspSerAlaSerAlaAspPheProTyrAsnProGlyGlnGlyGlnAlaIleArgAsnGlyValAsnArgAsnSerAlaIleIleGlyGlyValIleAlaValValIlePheThrIleLeuCysThrLeuValPheLeuIleArgTyrMetPheArgHisLysGlyThrTyrHisThrAsnGluAlaLysGlyAlaGluSerAlaGluSerAlaAspAlaAlaIleMetAsnAsnAspProAsnPheThrGluThrIleAspGluSerLysLysGluTrpLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361727.8:c.1346C>G"
          },
          "RefSeq": {
            "hgvs": "NM_014141.6:c.1346C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354778.3:p.Ser449Ter"
          },
          "RefSeq": {
            "hgvs": "NP_054860.1:p.Ser449Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}