{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5149110",
  "communityStandardTitle": [
    "NM_004473.4(FOXE1):c.504_518del (p.Ala175_Ala179del)"
  ],
  "externalRecords": {
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      {
        "@id": "http://exac.broadinstitute.org/variant/9-100616694-TGCCGCAGCCGCCGCC-T",
        "id": "9-100616694-TGCCGCAGCCGCCGCC-T",
        "variant": "9:100616694 TGCCGCAGCCGCCGCC / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.100616695_100616709del?assembly=hg19",
        "id": "chr9:g.100616695_100616709del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.100616700_100616721delinsCGCCGCC?assembly=hg19",
        "id": "chr9:g.100616700_100616721delinsCGCCGCC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.97854413_97854427del?assembly=hg38",
        "id": "chr9:g.97854413_97854427del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/774004748",
        "rs": 774004748
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-100616694-TGCCGCAGCCGCCGCC-T?dataset=gnomad_r2_1",
        "id": "9-100616694-TGCCGCAGCCGCCGCC-T",
        "variant": "9:100616694 TGCCGCAGCCGCCGCC / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-97854412-TGCCGCAGCCGCCGCC-T?dataset=gnomad_r3",
        "id": "9-97854412-TGCCGCAGCCGCCGCC-T",
        "variant": "9:97854412 TGCCGCAGCCGCCGCC / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-97854412-TGCCGCAGCCGCCGCC-T?dataset=gnomad_r4",
        "id": "9-97854412-TGCCGCAGCCGCCGCC-T",
        "variant": "9:97854412 TGCCGCAGCCGCCGCC / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 97854432,
          "referenceAllele": "AGCCGCCGCCGCCGC",
          "start": 97854417
        }
      ],
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        "CM000671.2:g.97854418_97854432del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 100616714,
          "referenceAllele": "AGCCGCCGCCGCCGC",
          "start": 100616699
        }
      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 99656535,
          "referenceAllele": "AGCCGCCGCCGCCGC",
          "start": 99656520
        }
      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6178,
          "referenceAllele": "AGCCGCCGCCGCCGC",
          "start": 6163
        }
      ],
      "hgvs": [
        "NG_011979.1:g.6164_6178del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002083"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1207,
          "referenceAllele": "AGCCGCCGCCGCCGC",
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        }
      ],
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      "geneNCBI_id": 2304,
      "geneSymbol": "FOXE1",
      "hgvs": [
        "ENST00000375123.5:c.504_518del"
      ],
      "proteinEffect": {
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      },
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        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_004473.4:c.504_518del"
          }
        },
        "protein": {
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          },
          "RefSeq": {
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          }
        }
      }
    },
    {
      "coordinates": [
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          "allele": "",
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          "referenceAllele": "AGCCGCCGCCGCCGC",
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        }
      ],
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      "geneNCBI_id": 2304,
      "geneSymbol": "FOXE1",
      "hgvs": [
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      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063017623",
      "coordinates": [
        {
          "allele": "",
          "end": 1178,
          "referenceAllele": "AGCCGCCGCCGCCGC",
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      ],
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      "geneSymbol": "FOXE1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_004464.2:p.Ala175_Ala179del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063017623",
      "coordinates": [
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          "allele": "",
          "end": 1207,
          "referenceAllele": "AGCCGCCGCCGCCGC",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN003806",
      "geneNCBI_id": 2304,
      "geneSymbol": "FOXE1",
      "hgvs": [
        "NM_004473.4:c.504_518del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004464.2:p.Ala169_Ala173del",
        "hgvsWellDefined": "NP_004464.2:p.Ala175_Ala179del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696148",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000375123.5:c.504_518del"
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          "RefSeq": {
            "hgvs": "NM_004473.4:c.504_518del"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000364265.3:p.Ala169_Ala173del"
          },
          "RefSeq": {
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          }
        }
      }
    }
  ],
  "type": "nucleotide"
}