{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2391565224",
  "communityStandardTitle": [
    "NM_000383.4(AIRE):c.260T= (p.Leu87=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517428",
        "rs": 1057517428
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2040485564",
        "rs": 2040485564
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 44286684,
          "referenceAllele": "T",
          "start": 44286683
        }
      ],
      "hgvs": [
        "NC_000021.9:g.44286684T=",
        "CM000683.2:g.44286684T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 45706567,
          "referenceAllele": "T",
          "start": 45706566
        }
      ],
      "hgvs": [
        "NC_000021.8:g.45706567T=",
        "CM000683.1:g.45706567T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 44530995,
          "referenceAllele": "T",
          "start": 44530994
        }
      ],
      "hgvs": [
        "NC_000021.7:g.44530995T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5805,
          "referenceAllele": "T",
          "start": 5804
        }
      ],
      "hgvs": [
        "NG_009556.1:g.5805T=",
        "LRG_18:g.5805T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001608"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "T",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "ENST00000291582.6:c.260T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000291582.5:p.Leu87="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744080",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000291582.6:c.260T="
          },
          "RefSeq": {
            "hgvs": "NM_000383.4:c.260T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000291582.5:p.Leu87="
          },
          "RefSeq": {
            "hgvs": "NP_000374.1:p.Leu87="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "T",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "ENST00000291582.5:c.260T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000291582.5:p.Leu87="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 421,
          "referenceAllele": "T",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "ENST00000527919.5:n.421T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "T",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "ENST00000530812.5:n.429T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825163648",
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "T",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "NM_000383.3:c.260T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000374.1:p.Leu87="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 421,
          "referenceAllele": "T",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "XM_011529551.1:c.260T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527853.1:p.Leu87="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825163648",
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "T",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "NM_000383.4:c.260T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000374.1:p.Leu87="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000291582.6:c.260T="
          },
          "RefSeq": {
            "hgvs": "NM_000383.4:c.260T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000291582.5:p.Leu87="
          },
          "RefSeq": {
            "hgvs": "NP_000374.1:p.Leu87="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}