{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2573053900",
  "communityStandardTitle": [
    "NM_005249.5(FOXG1):c.1095_1114del (p.Arg366ProfsTer?)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1313230[alleleid]",
        "alleleId": 1313230,
        "preferredName": "NM_005249.5(FOXG1):c.1095_1114del (p.Arg366fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1322933",
        "RCV": [
          "RCV001783308"
        ],
        "variationId": 1322933
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2138661946",
        "rs": 2138661946
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 28768393,
          "referenceAllele": "CCGGCTGGTCAACGGGGAGA",
          "start": 28768373
        }
      ],
      "hgvs": [
        "NC_000014.9:g.28768374_28768393del",
        "CM000676.2:g.28768374_28768393del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 29237599,
          "referenceAllele": "CCGGCTGGTCAACGGGGAGA",
          "start": 29237579
        }
      ],
      "hgvs": [
        "NC_000014.8:g.29237580_29237599del",
        "CM000676.1:g.29237580_29237599del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 28307350,
          "referenceAllele": "CCGGCTGGTCAACGGGGAGA",
          "start": 28307330
        }
      ],
      "hgvs": [
        "NC_000014.7:g.28307331_28307350del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6313,
          "referenceAllele": "CCGGCTGGTCAACGGGGAGA",
          "start": 6293
        }
      ],
      "hgvs": [
        "NG_009367.1:g.6294_6313del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001575"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2789,
          "referenceAllele": "CCGGCTGGTCAACGGGGAGA",
          "start": 2769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "ENST00000706482.1:c.1095_1114del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516406.1:p.Arg366ProfsTer?",
        "hgvsWellDefined": "ENSP00000516406.1:p.[Arg366_Leu367delinsPro;Asn369_Ile372delinsArgHisAlaPro;Tyr374_Thr376del;His378_Thr380delinsGlyArgArg;Ala382_Ala383delinsSerArg;Ala385Gly;Ser387_Val388delinsLeuArg;Cys390Val;Leu392_Ser401delinsAlaLeuLeuTrpAspLeuLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912883"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1607,
          "referenceAllele": "CCGGCTGGTCAACGGGGAGA",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "ENST00000313071.7:c.1095_1114del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339004.3:p.Arg366ProfsTer?",
        "hgvsWellDefined": "ENSP00000339004.3:p.[Arg366_Leu367delinsPro;Asn369_Ile372delinsArgHisAlaPro;Tyr374_Thr376del;His378_Thr380delinsGlyArgArg;Ala382_Ala383delinsSerArg;Ala385Gly;Ser387_Val388delinsLeuArg;Cys390Val;Leu392_Ser401delinsAlaLeuLeuTrpAspLeuLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745833",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313071.7:c.1095_1114del"
          },
          "RefSeq": {
            "hgvs": "NM_005249.5:c.1095_1114del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339004.3:p.Arg366ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_005240.3:p.Arg366ProfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3006,
          "referenceAllele": "CCGGCTGGTCAACGGGGAGA",
          "start": 2986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "ENST00000313071.6:c.1095_1114del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339004.3:p.Arg366ProfsTer?",
        "hgvsWellDefined": "ENSP00000339004.3:p.[Arg366_Leu367delinsPro;Asn369_Ile372delinsArgHisAlaPro;Tyr374_Thr376del;His378_Thr380delinsGlyArgArg;Ala382_Ala383delinsSerArg;Ala385Gly;Ser387_Val388delinsLeuArg;Cys390Val;Leu392_Ser401delinsAlaLeuLeuTrpAspLeuLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256763"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1322,
          "referenceAllele": "CCGGCTGGTCAACGGGGAGA",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "NM_005249.4:c.1095_1114del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005240.3:p.Arg366ProfsTer?",
        "hgvsWellDefined": "NP_005240.3:p.[Arg366_Leu367delinsPro;Asn369_Ile372delinsArgHisAlaPro;Tyr374_Thr376del;His378_Thr380delinsGlyArgArg;Ala382_Ala383delinsSerArg;Ala385Gly;Ser387_Val388delinsLeuArg;Cys390Val;Leu392_Ser401delinsAlaLeuLeuTrpAspLeuLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030360"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1607,
          "referenceAllele": "CCGGCTGGTCAACGGGGAGA",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "NM_005249.5:c.1095_1114del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005240.3:p.Arg366ProfsTer?",
        "hgvsWellDefined": "NP_005240.3:p.[Arg366_Leu367delinsPro;Asn369_Ile372delinsArgHisAlaPro;Tyr374_Thr376del;His378_Thr380delinsGlyArgArg;Ala382_Ala383delinsSerArg;Ala385Gly;Ser387_Val388delinsLeuArg;Cys390Val;Leu392_Ser401delinsAlaLeuLeuTrpAspLeuLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696361",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313071.7:c.1095_1114del"
          },
          "RefSeq": {
            "hgvs": "NM_005249.5:c.1095_1114del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339004.3:p.Arg366ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_005240.3:p.Arg366ProfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}