{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1275207291",
  "communityStandardTitle": [
    "NM_016232.5(IL1RL1):c.-149-5944A>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1420103",
        "rs": 1420103
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 102332172,
          "referenceAllele": "A",
          "start": 102332171
        }
      ],
      "hgvs": [
        "NC_000002.12:g.102332172A>T",
        "CM000664.2:g.102332172A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 102948632,
          "referenceAllele": "A",
          "start": 102948631
        }
      ],
      "hgvs": [
        "NC_000002.11:g.102948632A>T",
        "CM000664.1:g.102948632A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 102315064,
          "referenceAllele": "A",
          "start": 102315063
        }
      ],
      "hgvs": [
        "NC_000002.10:g.102315064A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61,
          "endIntronDirection": "-",
          "endIntronOffset": 5943,
          "referenceAllele": "A",
          "start": 61,
          "startIntronDirection": "-",
          "startIntronOffset": 5944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005998",
      "geneNCBI_id": 9173,
      "geneSymbol": "IL1RL1",
      "hgvs": [
        "ENST00000233954.6:c.-149-5944A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233954.1:n.-149-5944A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740934",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000233954.6:c.-149-5944A>T"
          },
          "RefSeq": {
            "hgvs": "NM_016232.5:c.-149-5944A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233954.1:n.-149-5944A>T"
          },
          "RefSeq": {
            "hgvs": "NP_057316.3:n.-149-5944A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "endIntronDirection": "-",
          "endIntronOffset": 5943,
          "referenceAllele": "A",
          "start": 122,
          "startIntronDirection": "-",
          "startIntronOffset": 5944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005998",
      "geneNCBI_id": 9173,
      "geneSymbol": "IL1RL1",
      "hgvs": [
        "ENST00000233954.5:c.-149-5944A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233954.1:n.-149-5944A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "endIntronDirection": "-",
          "endIntronOffset": 6808,
          "referenceAllele": "A",
          "start": 122,
          "startIntronDirection": "-",
          "startIntronOffset": 6809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005998",
      "geneNCBI_id": 9173,
      "geneSymbol": "IL1RL1",
      "hgvs": [
        "ENST00000404917.6:c.-146-6809A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384822.2:n.-146-6809A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 95,
          "endIntronDirection": "+",
          "endIntronOffset": 20549,
          "referenceAllele": "A",
          "start": 95,
          "startIntronDirection": "+",
          "startIntronOffset": 20548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005988",
      "geneNCBI_id": 8809,
      "geneSymbol": "IL18R1",
      "hgvs": [
        "ENST00000410040.5:c.-29+20549A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386663.1:n.-29+20549A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 280,
          "endIntronDirection": "-",
          "endIntronOffset": 5943,
          "referenceAllele": "A",
          "start": 280,
          "startIntronDirection": "-",
          "startIntronOffset": 5944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005998",
      "geneNCBI_id": 9173,
      "geneSymbol": "IL1RL1",
      "hgvs": [
        "ENST00000447231.5:c.-149-5944A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409437.1:n.-149-5944A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 95,
          "endIntronDirection": "-",
          "endIntronOffset": 5943,
          "referenceAllele": "A",
          "start": 95,
          "startIntronDirection": "-",
          "startIntronOffset": 5944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005998",
      "geneNCBI_id": 9173,
      "geneSymbol": "IL1RL1",
      "hgvs": [
        "ENST00000473175.1:n.96-5944A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "endIntronDirection": "-",
          "endIntronOffset": 6808,
          "referenceAllele": "A",
          "start": 122,
          "startIntronDirection": "-",
          "startIntronOffset": 6809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005998",
      "geneNCBI_id": 9173,
      "geneSymbol": "IL1RL1",
      "hgvs": [
        "NM_001282408.1:c.-146-6809A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269337.1:n.-146-6809A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "endIntronDirection": "-",
          "endIntronOffset": 5943,
          "referenceAllele": "A",
          "start": 122,
          "startIntronDirection": "-",
          "startIntronOffset": 5944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005998",
      "geneNCBI_id": 9173,
      "geneSymbol": "IL1RL1",
      "hgvs": [
        "NM_016232.4:c.-149-5944A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057316.3:n.-149-5944A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 95,
          "endIntronDirection": "-",
          "endIntronOffset": 5943,
          "referenceAllele": "A",
          "start": 95,
          "startIntronDirection": "-",
          "startIntronOffset": 5944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005998",
      "geneNCBI_id": 9173,
      "geneSymbol": "IL1RL1",
      "hgvs": [
        "XM_011512151.1:c.-149-5944A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510453.1:n.-149-5944A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61,
          "endIntronDirection": "-",
          "endIntronOffset": 5943,
          "referenceAllele": "A",
          "start": 61,
          "startIntronDirection": "-",
          "startIntronOffset": 5944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005998",
      "geneNCBI_id": 9173,
      "geneSymbol": "IL1RL1",
      "hgvs": [
        "NM_016232.5:c.-149-5944A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057316.3:n.-149-5944A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697693",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000233954.6:c.-149-5944A>T"
          },
          "RefSeq": {
            "hgvs": "NM_016232.5:c.-149-5944A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233954.1:n.-149-5944A>T"
          },
          "RefSeq": {
            "hgvs": "NP_057316.3:n.-149-5944A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61,
          "endIntronDirection": "-",
          "endIntronOffset": 6808,
          "referenceAllele": "A",
          "start": 61,
          "startIntronDirection": "-",
          "startIntronOffset": 6809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005998",
      "geneNCBI_id": 9173,
      "geneSymbol": "IL1RL1",
      "hgvs": [
        "NM_001282408.2:c.-146-6809A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269337.1:n.-146-6809A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715802"
    }
  ],
  "type": "nucleotide"
}