{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2954078646",
  "communityStandardTitle": [
    "NM_004473.4(FOXE1):c.498_524del (p.Ala171_Ala179del)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 97854438,
          "referenceAllele": "TGCCGCAGCCGCCGCCGCCGCCGCCGC",
          "start": 97854411
        }
      ],
      "hgvs": [
        "NC_000009.12:g.97854412_97854438del",
        "CM000671.2:g.97854412_97854438del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 100616720,
          "referenceAllele": "TGCCGCAGCCGCCGCCGCCGCCGCCGC",
          "start": 100616693
        }
      ],
      "hgvs": [
        "NC_000009.11:g.100616694_100616720del",
        "CM000671.1:g.100616694_100616720del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 99656541,
          "referenceAllele": "TGCCGCAGCCGCCGCCGCCGCCGCCGC",
          "start": 99656514
        }
      ],
      "hgvs": [
        "NC_000009.10:g.99656515_99656541del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6184,
          "referenceAllele": "TGCCGCAGCCGCCGCCGCCGCCGCCGC",
          "start": 6157
        }
      ],
      "hgvs": [
        "NG_011979.1:g.6158_6184del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002083"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1213,
          "referenceAllele": "TGCCGCAGCCGCCGCCGCCGCCGCCGC",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003806",
      "geneNCBI_id": 2304,
      "geneSymbol": "FOXE1",
      "hgvs": [
        "ENST00000375123.5:c.498_524del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364265.3:p.Ala167_Ala175del",
        "hgvsWellDefined": "ENSP00000364265.3:p.Ala171_Ala179del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751562",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375123.5:c.498_524del"
          },
          "RefSeq": {
            "hgvs": "NM_004473.4:c.498_524del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364265.3:p.Ala167_Ala175del"
          },
          "RefSeq": {
            "hgvs": "NP_004464.2:p.Ala167_Ala175del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1185,
          "referenceAllele": "TGCCGCAGCCGCCGCCGCCGCCGCCGC",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003806",
      "geneNCBI_id": 2304,
      "geneSymbol": "FOXE1",
      "hgvs": [
        "ENST00000375123.4:c.498_524del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364265.3:p.Ala167_Ala175del",
        "hgvsWellDefined": "ENSP00000364265.3:p.Ala171_Ala179del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075618688",
      "coordinates": [
        {
          "allele": "",
          "end": 1184,
          "referenceAllele": "TGCCGCAGCCGCCGCCGCCGCCGCCGC",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003806",
      "geneNCBI_id": 2304,
      "geneSymbol": "FOXE1",
      "hgvs": [
        "NM_004473.3:c.498_524del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004464.2:p.Ala167_Ala175del",
        "hgvsWellDefined": "NP_004464.2:p.Ala171_Ala179del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075618688",
      "coordinates": [
        {
          "allele": "",
          "end": 1213,
          "referenceAllele": "TGCCGCAGCCGCCGCCGCCGCCGCCGC",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003806",
      "geneNCBI_id": 2304,
      "geneSymbol": "FOXE1",
      "hgvs": [
        "NM_004473.4:c.498_524del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004464.2:p.Ala167_Ala175del",
        "hgvsWellDefined": "NP_004464.2:p.Ala171_Ala179del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696148",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375123.5:c.498_524del"
          },
          "RefSeq": {
            "hgvs": "NM_004473.4:c.498_524del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364265.3:p.Ala167_Ala175del"
          },
          "RefSeq": {
            "hgvs": "NP_004464.2:p.Ala167_Ala175del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}