{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1127210037",
  "communityStandardTitle": [
    "NM_004473.4(FOXE1):c.530_531insAGCCGCCGCCGCCGCCGCCGC (p.Ala173_Ala179dup)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1830637512",
        "rs": 1830637512
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-97854424-C-CGCCGCCGCCGCCGCCGCCGCA?dataset=gnomad_r3",
        "id": "9-97854424-C-CGCCGCCGCCGCCGCCGCCGCA",
        "variant": "9:97854424 C / CGCCGCCGCCGCCGCCGCCGCA"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-97854424-C-CGCCGCCGCCGCCGCCGCCGCA?dataset=gnomad_r4",
        "id": "9-97854424-C-CGCCGCCGCCGCCGCCGCCGCA",
        "variant": "9:97854424 C / CGCCGCCGCCGCCGCCGCCGCA"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "AGCCGCCGCCGCCGCCGCCGC",
          "end": 97854444,
          "referenceAllele": "",
          "start": 97854444
        }
      ],
      "hgvs": [
        "NC_000009.12:g.97854444_97854445insAGCCGCCGCCGCCGCCGCCGC",
        "CM000671.2:g.97854444_97854445insAGCCGCCGCCGCCGCCGCCGC"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "AGCCGCCGCCGCCGCCGCCGC",
          "end": 100616726,
          "referenceAllele": "",
          "start": 100616726
        }
      ],
      "hgvs": [
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        "CM000671.1:g.100616726_100616727insAGCCGCCGCCGCCGCCGCCGC"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "AGCCGCCGCCGCCGCCGCCGC",
          "end": 99656547,
          "referenceAllele": "",
          "start": 99656547
        }
      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "AGCCGCCGCCGCCGCCGCCGC",
          "end": 6190,
          "referenceAllele": "",
          "start": 6190
        }
      ],
      "hgvs": [
        "NG_011979.1:g.6190_6191insAGCCGCCGCCGCCGCCGCCGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002083"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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          "end": 1219,
          "referenceAllele": "",
          "start": 1219
        }
      ],
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      "geneNCBI_id": 2304,
      "geneSymbol": "FOXE1",
      "hgvs": [
        "ENST00000375123.5:c.530_531insAGCCGCCGCCGCCGCCGCCGC"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000364265.3:p.Ala173_Ala179dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751562",
      "MANE": {
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        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000375123.5:c.530_531insAGCCGCCGCCGCCGCCGCCGC"
          },
          "RefSeq": {
            "hgvs": "NM_004473.4:c.530_531insAGCCGCCGCCGCCGCCGCCGC"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000364265.3:p.Ala177_Ala178insAlaAlaAlaAlaAlaAlaAla"
          },
          "RefSeq": {
            "hgvs": "NP_004464.2:p.Ala177_Ala178insAlaAlaAlaAlaAlaAlaAla"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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          "end": 1191,
          "referenceAllele": "",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003806",
      "geneNCBI_id": 2304,
      "geneSymbol": "FOXE1",
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000364265.3:p.Ala173_Ala179dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075618685",
      "coordinates": [
        {
          "allele": "AGCCGCCGCCGCCGCCGCCGC",
          "end": 1190,
          "referenceAllele": "",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003806",
      "geneNCBI_id": 2304,
      "geneSymbol": "FOXE1",
      "hgvs": [
        "NM_004473.3:c.530_531insAGCCGCCGCCGCCGCCGCCGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_004464.2:p.Ala177_Ala178insAlaAlaAlaAlaAlaAlaAla",
        "hgvsWellDefined": "NP_004464.2:p.Ala173_Ala179dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075618685",
      "coordinates": [
        {
          "allele": "AGCCGCCGCCGCCGCCGCCGC",
          "end": 1219,
          "referenceAllele": "",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003806",
      "geneNCBI_id": 2304,
      "geneSymbol": "FOXE1",
      "hgvs": [
        "NM_004473.4:c.530_531insAGCCGCCGCCGCCGCCGCCGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_004464.2:p.Ala177_Ala178insAlaAlaAlaAlaAlaAlaAla",
        "hgvsWellDefined": "NP_004464.2:p.Ala173_Ala179dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696148",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375123.5:c.530_531insAGCCGCCGCCGCCGCCGCCGC"
          },
          "RefSeq": {
            "hgvs": "NM_004473.4:c.530_531insAGCCGCCGCCGCCGCCGCCGC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364265.3:p.Ala177_Ala178insAlaAlaAlaAlaAlaAlaAla"
          },
          "RefSeq": {
            "hgvs": "NP_004464.2:p.Ala177_Ala178insAlaAlaAlaAlaAlaAlaAla"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}