{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA389476149",
  "communityStandardTitle": [
    "NM_005249.5(FOXG1):c.923G>A (p.Trp308Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1293779[alleleid]",
        "alleleId": 1293779,
        "preferredName": "NM_005249.5(FOXG1):c.923G>A (p.Trp308Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1303502",
        "RCV": [
          "RCV001762960"
        ],
        "variationId": 1303502
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.29237408G>A?assembly=hg19",
        "id": "chr14:g.29237408G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.28768202G>A?assembly=hg38",
        "id": "chr14:g.28768202G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2138661744",
        "rs": 2138661744
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 28768202,
          "referenceAllele": "G",
          "start": 28768201
        }
      ],
      "hgvs": [
        "NC_000014.9:g.28768202G>A",
        "CM000676.2:g.28768202G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 29237408,
          "referenceAllele": "G",
          "start": 29237407
        }
      ],
      "hgvs": [
        "NC_000014.8:g.29237408G>A",
        "CM000676.1:g.29237408G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 28307159,
          "referenceAllele": "G",
          "start": 28307158
        }
      ],
      "hgvs": [
        "NC_000014.7:g.28307159G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6122,
          "referenceAllele": "G",
          "start": 6121
        }
      ],
      "hgvs": [
        "NG_009367.1:g.6122G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001575"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2598,
          "referenceAllele": "G",
          "start": 2597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "ENST00000706482.1:c.923G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516406.1:p.Trp308Ter",
        "hgvsWellDefined": "ENSP00000516406.1:p.Trp308_His489delinsProMetSerProPheLeuSerLeuHisHisProArgAlaSerSerThrLeuSerTyrAsnGlyThrThrSerAlaTyrProSerHisProMetProTyrSerSerValLeuThrGlnAsnSerLeuGlyAsnAsnHisSerPheSerThrAlaAsnGlyLeuSerValAspArgLeuValAsnGlyGluIleProTyrAlaThrHisHisLeuThrAlaAlaAlaLeuAlaAlaSerValProCysGlyLeuSerValProCysSerGlyThrTyrSerLeuAsnProCysSerValAsnLeuLeuAlaGlyGlnThrSerTyrPhePheProHisValProHisProSerMetThrSerGlnSerSerThrSerMetSerAlaArgAlaAlaSerSerSerThrSerProGlnAlaProSerThrLeuProCysGluSerLeuArgProSerLeuProSerPheThrThrGlyLeuSerGlyGlyLeuSerAspTyrPheThrHisGlnAsnGlnGlySerSerSerAsnProLeuIleHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912883"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1416,
          "referenceAllele": "G",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000339004.3:p.Trp308_His489delinsProMetSerProPheLeuSerLeuHisHisProArgAlaSerSerThrLeuSerTyrAsnGlyThrThrSerAlaTyrProSerHisProMetProTyrSerSerValLeuThrGlnAsnSerLeuGlyAsnAsnHisSerPheSerThrAlaAsnGlyLeuSerValAspArgLeuValAsnGlyGluIleProTyrAlaThrHisHisLeuThrAlaAlaAlaLeuAlaAlaSerValProCysGlyLeuSerValProCysSerGlyThrTyrSerLeuAsnProCysSerValAsnLeuLeuAlaGlyGlnThrSerTyrPhePheProHisValProHisProSerMetThrSerGlnSerSerThrSerMetSerAlaArgAlaAlaSerSerSerThrSerProGlnAlaProSerThrLeuProCysGluSerLeuArgProSerLeuProSerPheThrThrGlyLeuSerGlyGlyLeuSerAspTyrPheThrHisGlnAsnGlnGlySerSerSerAsnProLeuIleHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745833",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000313071.7:c.923G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005249.5:c.923G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339004.3:p.Trp308Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005240.3:p.Trp308Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2815,
          "referenceAllele": "G",
          "start": 2814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000339004.3:p.Trp308_His489delinsProMetSerProPheLeuSerLeuHisHisProArgAlaSerSerThrLeuSerTyrAsnGlyThrThrSerAlaTyrProSerHisProMetProTyrSerSerValLeuThrGlnAsnSerLeuGlyAsnAsnHisSerPheSerThrAlaAsnGlyLeuSerValAspArgLeuValAsnGlyGluIleProTyrAlaThrHisHisLeuThrAlaAlaAlaLeuAlaAlaSerValProCysGlyLeuSerValProCysSerGlyThrTyrSerLeuAsnProCysSerValAsnLeuLeuAlaGlyGlnThrSerTyrPhePheProHisValProHisProSerMetThrSerGlnSerSerThrSerMetSerAlaArgAlaAlaSerSerSerThrSerProGlnAlaProSerThrLeuProCysGluSerLeuArgProSerLeuProSerPheThrThrGlyLeuSerGlyGlyLeuSerAspTyrPheThrHisGlnAsnGlnGlySerSerSerAsnProLeuIleHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256763"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123556",
      "coordinates": [
        {
          "allele": "A",
          "end": 1131,
          "referenceAllele": "G",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "NM_005249.4:c.923G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005240.3:p.Trp308Ter",
        "hgvsWellDefined": "NP_005240.3:p.Trp308_His489delinsProMetSerProPheLeuSerLeuHisHisProArgAlaSerSerThrLeuSerTyrAsnGlyThrThrSerAlaTyrProSerHisProMetProTyrSerSerValLeuThrGlnAsnSerLeuGlyAsnAsnHisSerPheSerThrAlaAsnGlyLeuSerValAspArgLeuValAsnGlyGluIleProTyrAlaThrHisHisLeuThrAlaAlaAlaLeuAlaAlaSerValProCysGlyLeuSerValProCysSerGlyThrTyrSerLeuAsnProCysSerValAsnLeuLeuAlaGlyGlnThrSerTyrPhePheProHisValProHisProSerMetThrSerGlnSerSerThrSerMetSerAlaArgAlaAlaSerSerSerThrSerProGlnAlaProSerThrLeuProCysGluSerLeuArgProSerLeuProSerPheThrThrGlyLeuSerGlyGlyLeuSerAspTyrPheThrHisGlnAsnGlnGlySerSerSerAsnProLeuIleHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123556",
      "coordinates": [
        {
          "allele": "A",
          "end": 1416,
          "referenceAllele": "G",
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      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "NM_005249.5:c.923G>A"
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      "proteinEffect": {
        "hgvs": "NP_005240.3:p.Trp308Ter",
        "hgvsWellDefined": "NP_005240.3:p.Trp308_His489delinsProMetSerProPheLeuSerLeuHisHisProArgAlaSerSerThrLeuSerTyrAsnGlyThrThrSerAlaTyrProSerHisProMetProTyrSerSerValLeuThrGlnAsnSerLeuGlyAsnAsnHisSerPheSerThrAlaAsnGlyLeuSerValAspArgLeuValAsnGlyGluIleProTyrAlaThrHisHisLeuThrAlaAlaAlaLeuAlaAlaSerValProCysGlyLeuSerValProCysSerGlyThrTyrSerLeuAsnProCysSerValAsnLeuLeuAlaGlyGlnThrSerTyrPhePheProHisValProHisProSerMetThrSerGlnSerSerThrSerMetSerAlaArgAlaAlaSerSerSerThrSerProGlnAlaProSerThrLeuProCysGluSerLeuArgProSerLeuProSerPheThrThrGlyLeuSerGlyGlyLeuSerAspTyrPheThrHisGlnAsnGlnGlySerSerSerAsnProLeuIleHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696361",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313071.7:c.923G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005249.5:c.923G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339004.3:p.Trp308Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005240.3:p.Trp308Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}