{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA389475504",
  "communityStandardTitle": [
    "NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=446889[alleleid]",
        "alleleId": 446889,
        "preferredName": "NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/453289",
        "RCV": [
          "RCV000550163",
          "RCV001003977"
        ],
        "variationId": 453289
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.29237109C>A?assembly=hg19",
        "id": "chr14:g.29237109C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.28767903C>A?assembly=hg38",
        "id": "chr14:g.28767903C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606826",
        "rs": 267606826
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 28767903,
          "referenceAllele": "C",
          "start": 28767902
        }
      ],
      "hgvs": [
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        "CM000676.2:g.28767903C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 29237109,
          "referenceAllele": "C",
          "start": 29237108
        }
      ],
      "hgvs": [
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        "CM000676.1:g.29237109C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 28306860,
          "referenceAllele": "C",
          "start": 28306859
        }
      ],
      "hgvs": [
        "NC_000014.7:g.28306860C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5823,
          "referenceAllele": "C",
          "start": 5822
        }
      ],
      "hgvs": [
        "NG_009367.1:g.5823C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001575"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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          "end": 2299,
          "referenceAllele": "C",
          "start": 2298
        }
      ],
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      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516406.1:p.Tyr208Ter",
        "hgvsWellDefined": "ENSP00000516406.1:p.Tyr208_His489delinsGluPheIleMetLysAsnPheProTyrTyrArgGluAsnLysGlnGlyTrpGlnAsnSerIleArgHisAsnLeuSerLeuAsnLysCysPheValLysValProArgHisTyrAspAspProGlyLysGlyAsnTyrTrpMetLeuAspProSerSerAspAspValPheIleGlyGlyThrThrGlyLysLeuArgArgArgSerThrThrSerArgAlaLysLeuAlaPheLysArgGlyAlaArgLeuThrSerThrGlyLeuThrPheMetAspArgAlaGlySerLeuTyrTrpProMetSerProPheLeuSerLeuHisHisProArgAlaSerSerThrLeuSerTyrAsnGlyThrThrSerAlaTyrProSerHisProMetProTyrSerSerValLeuThrGlnAsnSerLeuGlyAsnAsnHisSerPheSerThrAlaAsnGlyLeuSerValAspArgLeuValAsnGlyGluIleProTyrAlaThrHisHisLeuThrAlaAlaAlaLeuAlaAlaSerValProCysGlyLeuSerValProCysSerGlyThrTyrSerLeuAsnProCysSerValAsnLeuLeuAlaGlyGlnThrSerTyrPhePheProHisValProHisProSerMetThrSerGlnSerSerThrSerMetSerAlaArgAlaAlaSerSerSerThrSerProGlnAlaProSerThrLeuProCysGluSerLeuArgProSerLeuProSerPheThrThrGlyLeuSerGlyGlyLeuSerAspTyrPheThrHisGlnAsnGlnGlySerSerSerAsnProLeuIleHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912883"
    },
    {
      "coordinates": [
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          "end": 1117,
          "referenceAllele": "C",
          "start": 1116
        }
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      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000339004.3:p.Tyr208_His489delinsGluPheIleMetLysAsnPheProTyrTyrArgGluAsnLysGlnGlyTrpGlnAsnSerIleArgHisAsnLeuSerLeuAsnLysCysPheValLysValProArgHisTyrAspAspProGlyLysGlyAsnTyrTrpMetLeuAspProSerSerAspAspValPheIleGlyGlyThrThrGlyLysLeuArgArgArgSerThrThrSerArgAlaLysLeuAlaPheLysArgGlyAlaArgLeuThrSerThrGlyLeuThrPheMetAspArgAlaGlySerLeuTyrTrpProMetSerProPheLeuSerLeuHisHisProArgAlaSerSerThrLeuSerTyrAsnGlyThrThrSerAlaTyrProSerHisProMetProTyrSerSerValLeuThrGlnAsnSerLeuGlyAsnAsnHisSerPheSerThrAlaAsnGlyLeuSerValAspArgLeuValAsnGlyGluIleProTyrAlaThrHisHisLeuThrAlaAlaAlaLeuAlaAlaSerValProCysGlyLeuSerValProCysSerGlyThrTyrSerLeuAsnProCysSerValAsnLeuLeuAlaGlyGlnThrSerTyrPhePheProHisValProHisProSerMetThrSerGlnSerSerThrSerMetSerAlaArgAlaAlaSerSerSerThrSerProGlnAlaProSerThrLeuProCysGluSerLeuArgProSerLeuProSerPheThrThrGlyLeuSerGlyGlyLeuSerAspTyrPheThrHisGlnAsnGlnGlySerSerSerAsnProLeuIleHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745833",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
            "hgvs": "NM_005249.5:c.624C>A"
          }
        },
        "protein": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NP_005240.3:p.Tyr208Ter"
          }
        }
      }
    },
    {
      "coordinates": [
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          "end": 2516,
          "referenceAllele": "C",
          "start": 2515
        }
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      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "ENST00000313071.6:c.624C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339004.3:p.Tyr208Ter",
        "hgvsWellDefined": "ENSP00000339004.3:p.Tyr208_His489delinsGluPheIleMetLysAsnPheProTyrTyrArgGluAsnLysGlnGlyTrpGlnAsnSerIleArgHisAsnLeuSerLeuAsnLysCysPheValLysValProArgHisTyrAspAspProGlyLysGlyAsnTyrTrpMetLeuAspProSerSerAspAspValPheIleGlyGlyThrThrGlyLysLeuArgArgArgSerThrThrSerArgAlaLysLeuAlaPheLysArgGlyAlaArgLeuThrSerThrGlyLeuThrPheMetAspArgAlaGlySerLeuTyrTrpProMetSerProPheLeuSerLeuHisHisProArgAlaSerSerThrLeuSerTyrAsnGlyThrThrSerAlaTyrProSerHisProMetProTyrSerSerValLeuThrGlnAsnSerLeuGlyAsnAsnHisSerPheSerThrAlaAsnGlyLeuSerValAspArgLeuValAsnGlyGluIleProTyrAlaThrHisHisLeuThrAlaAlaAlaLeuAlaAlaSerValProCysGlyLeuSerValProCysSerGlyThrTyrSerLeuAsnProCysSerValAsnLeuLeuAlaGlyGlnThrSerTyrPhePheProHisValProHisProSerMetThrSerGlnSerSerThrSerMetSerAlaArgAlaAlaSerSerSerThrSerProGlnAlaProSerThrLeuProCysGluSerLeuArgProSerLeuProSerPheThrThrGlyLeuSerGlyGlyLeuSerAspTyrPheThrHisGlnAsnGlnGlySerSerSerAsnProLeuIleHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256763"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123553",
      "coordinates": [
        {
          "allele": "A",
          "end": 832,
          "referenceAllele": "C",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_005240.3:p.Tyr208_His489delinsGluPheIleMetLysAsnPheProTyrTyrArgGluAsnLysGlnGlyTrpGlnAsnSerIleArgHisAsnLeuSerLeuAsnLysCysPheValLysValProArgHisTyrAspAspProGlyLysGlyAsnTyrTrpMetLeuAspProSerSerAspAspValPheIleGlyGlyThrThrGlyLysLeuArgArgArgSerThrThrSerArgAlaLysLeuAlaPheLysArgGlyAlaArgLeuThrSerThrGlyLeuThrPheMetAspArgAlaGlySerLeuTyrTrpProMetSerProPheLeuSerLeuHisHisProArgAlaSerSerThrLeuSerTyrAsnGlyThrThrSerAlaTyrProSerHisProMetProTyrSerSerValLeuThrGlnAsnSerLeuGlyAsnAsnHisSerPheSerThrAlaAsnGlyLeuSerValAspArgLeuValAsnGlyGluIleProTyrAlaThrHisHisLeuThrAlaAlaAlaLeuAlaAlaSerValProCysGlyLeuSerValProCysSerGlyThrTyrSerLeuAsnProCysSerValAsnLeuLeuAlaGlyGlnThrSerTyrPhePheProHisValProHisProSerMetThrSerGlnSerSerThrSerMetSerAlaArgAlaAlaSerSerSerThrSerProGlnAlaProSerThrLeuProCysGluSerLeuArgProSerLeuProSerPheThrThrGlyLeuSerGlyGlyLeuSerAspTyrPheThrHisGlnAsnGlnGlySerSerSerAsnProLeuIleHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123553",
      "coordinates": [
        {
          "allele": "A",
          "end": 1117,
          "referenceAllele": "C",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "NM_005249.5:c.624C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005240.3:p.Tyr208Ter",
        "hgvsWellDefined": "NP_005240.3:p.Tyr208_His489delinsGluPheIleMetLysAsnPheProTyrTyrArgGluAsnLysGlnGlyTrpGlnAsnSerIleArgHisAsnLeuSerLeuAsnLysCysPheValLysValProArgHisTyrAspAspProGlyLysGlyAsnTyrTrpMetLeuAspProSerSerAspAspValPheIleGlyGlyThrThrGlyLysLeuArgArgArgSerThrThrSerArgAlaLysLeuAlaPheLysArgGlyAlaArgLeuThrSerThrGlyLeuThrPheMetAspArgAlaGlySerLeuTyrTrpProMetSerProPheLeuSerLeuHisHisProArgAlaSerSerThrLeuSerTyrAsnGlyThrThrSerAlaTyrProSerHisProMetProTyrSerSerValLeuThrGlnAsnSerLeuGlyAsnAsnHisSerPheSerThrAlaAsnGlyLeuSerValAspArgLeuValAsnGlyGluIleProTyrAlaThrHisHisLeuThrAlaAlaAlaLeuAlaAlaSerValProCysGlyLeuSerValProCysSerGlyThrTyrSerLeuAsnProCysSerValAsnLeuLeuAlaGlyGlnThrSerTyrPhePheProHisValProHisProSerMetThrSerGlnSerSerThrSerMetSerAlaArgAlaAlaSerSerSerThrSerProGlnAlaProSerThrLeuProCysGluSerLeuArgProSerLeuProSerPheThrThrGlyLeuSerGlyGlyLeuSerAspTyrPheThrHisGlnAsnGlnGlySerSerSerAsnProLeuIleHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696361",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313071.7:c.624C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005249.5:c.624C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339004.3:p.Tyr208Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005240.3:p.Tyr208Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}