{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2259313408",
  "communityStandardTitle": [
    "NM_139280.4(ORMDL3):c.-22-387T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4065275",
        "rs": 4065275
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 39924612,
          "referenceAllele": "A",
          "start": 39924611
        }
      ],
      "hgvs": [
        "NC_000017.11:g.39924612A=",
        "CM000679.2:g.39924612A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 38080865,
          "referenceAllele": "A",
          "start": 38080864
        }
      ],
      "hgvs": [
        "NC_000017.10:g.38080865A=",
        "CM000679.1:g.38080865A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 35334391,
          "referenceAllele": "A",
          "start": 35334390
        }
      ],
      "hgvs": [
        "NC_000017.9:g.35334391A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 118,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "T",
          "start": 118,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016038",
      "geneNCBI_id": 94103,
      "geneSymbol": "ORMDL3",
      "hgvs": [
        "ENST00000304046.7:c.-22-387T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304858.2:n.-22-387T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745069",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304046.7:c.-22-387T="
          },
          "RefSeq": {
            "hgvs": "NM_139280.4:c.-22-387T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304858.2:n.-22-387T="
          },
          "RefSeq": {
            "hgvs": "NP_644809.1:n.-22-387T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 118,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "T",
          "start": 118,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016038",
      "geneNCBI_id": 94103,
      "geneSymbol": "ORMDL3",
      "hgvs": [
        "ENST00000304046.6:c.-22-387T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304858.2:n.-22-387T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1473,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "T",
          "start": 1473,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016038",
      "geneNCBI_id": 94103,
      "geneSymbol": "ORMDL3",
      "hgvs": [
        "ENST00000394169.5:c.-23+143T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377724.1:n.-23+143T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 118,
          "endIntronDirection": "-",
          "endIntronOffset": 391,
          "referenceAllele": "T",
          "start": 118,
          "startIntronDirection": "-",
          "startIntronOffset": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016038",
      "geneNCBI_id": 94103,
      "geneSymbol": "ORMDL3",
      "hgvs": [
        "ENST00000579695.5:c.-17-392T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464693.1:n.-17-392T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 163,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "T",
          "start": 163,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016038",
      "geneNCBI_id": 94103,
      "geneSymbol": "ORMDL3",
      "hgvs": [
        "ENST00000584000.1:c.-22-387T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464298.1:n.-22-387T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "T",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016038",
      "geneNCBI_id": 94103,
      "geneSymbol": "ORMDL3",
      "hgvs": [
        "NM_139280.2:c.-22-387T="
      ],
      "proteinEffect": {
        "hgvs": "NP_644809.1:n.-22-387T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 29,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "T",
          "start": 29,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016038",
      "geneNCBI_id": 94103,
      "geneSymbol": "ORMDL3",
      "hgvs": [
        "XM_005257825.3:c.-22-387T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257882.2:n.-22-387T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061861"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 121,
          "endIntronDirection": "-",
          "endIntronOffset": 391,
          "referenceAllele": "T",
          "start": 121,
          "startIntronDirection": "-",
          "startIntronOffset": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016038",
      "geneNCBI_id": 94103,
      "geneSymbol": "ORMDL3",
      "hgvs": [
        "XM_005257827.2:c.-17-392T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257884.1:n.-17-392T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061862"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1478,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "T",
          "start": 1478,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016038",
      "geneNCBI_id": 94103,
      "geneSymbol": "ORMDL3",
      "hgvs": [
        "NM_001320801.1:c.-23+143T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307730.1:n.-23+143T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513817"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "endIntronDirection": "-",
          "endIntronOffset": 391,
          "referenceAllele": "T",
          "start": 321,
          "startIntronDirection": "-",
          "startIntronOffset": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016038",
      "geneNCBI_id": 94103,
      "geneSymbol": "ORMDL3",
      "hgvs": [
        "NM_001320802.1:c.-17-392T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307731.1:n.-17-392T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "T",
          "start": 30,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016038",
      "geneNCBI_id": 94103,
      "geneSymbol": "ORMDL3",
      "hgvs": [
        "NM_001320803.1:c.-22-387T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307732.1:n.-22-387T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "T",
          "start": 321,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016038",
      "geneNCBI_id": 94103,
      "geneSymbol": "ORMDL3",
      "hgvs": [
        "NM_139280.3:c.-22-387T="
      ],
      "proteinEffect": {
        "hgvs": "NP_644809.1:n.-22-387T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 118,
          "endIntronDirection": "-",
          "endIntronOffset": 386,
          "referenceAllele": "T",
          "start": 118,
          "startIntronDirection": "-",
          "startIntronOffset": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016038",
      "geneNCBI_id": 94103,
      "geneSymbol": "ORMDL3",
      "hgvs": [
        "NM_139280.4:c.-22-387T="
      ],
      "proteinEffect": {
        "hgvs": "NP_644809.1:n.-22-387T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672007",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304046.7:c.-22-387T="
          },
          "RefSeq": {
            "hgvs": "NM_139280.4:c.-22-387T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304858.2:n.-22-387T="
          },
          "RefSeq": {
            "hgvs": "NP_644809.1:n.-22-387T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 118,
          "endIntronDirection": "-",
          "endIntronOffset": 391,
          "referenceAllele": "T",
          "start": 118,
          "startIntronDirection": "-",
          "startIntronOffset": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016038",
      "geneNCBI_id": 94103,
      "geneSymbol": "ORMDL3",
      "hgvs": [
        "NM_001320802.2:c.-17-392T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307731.1:n.-17-392T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1610,
          "endIntronDirection": "+",
          "endIntronOffset": 143,
          "referenceAllele": "T",
          "start": 1610,
          "startIntronDirection": "+",
          "startIntronOffset": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016038",
      "geneNCBI_id": 94103,
      "geneSymbol": "ORMDL3",
      "hgvs": [
        "NM_001320801.2:c.-23+143T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307730.1:n.-23+143T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717851"
    }
  ],
  "type": "nucleotide"
}