{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2262616408",
  "communityStandardTitle": [
    "NM_000212.3(ITGB3):c.*1016T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3809865",
        "rs": 3809865
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 47311220,
          "referenceAllele": "T",
          "start": 47311219
        }
      ],
      "hgvs": [
        "NC_000017.11:g.47311220T=",
        "CM000679.2:g.47311220T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 45388586,
          "referenceAllele": "T",
          "start": 45388585
        }
      ],
      "hgvs": [
        "NC_000017.10:g.45388586T=",
        "CM000679.1:g.45388586T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42743585,
          "referenceAllele": "T",
          "start": 42743584
        }
      ],
      "hgvs": [
        "NC_000017.9:g.42743585T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 62379,
          "referenceAllele": "T",
          "start": 62378
        }
      ],
      "hgvs": [
        "NG_008332.2:g.62379T=",
        "LRG_481:g.62379T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001033"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3418,
          "referenceAllele": "T",
          "start": 3417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.7:c.*1016T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.2:n.*1016T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760268",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.*1016T="
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.*1016T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:n.*1016T="
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:n.*1016T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3399,
          "referenceAllele": "T",
          "start": 3398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.5:c.*1016T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.1:n.*1016T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "endIntronDirection": "+",
          "endIntronOffset": 3583,
          "referenceAllele": "T",
          "start": 2266,
          "startIntronDirection": "+",
          "startIntronOffset": 3582
        }
      ],
      "hgvs": [
        "ENST00000560629.1:c.2266+3583T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3403,
          "referenceAllele": "T",
          "start": 3402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.2:c.*1016T=",
        "LRG_481t1:c.*1016T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:n.*1016T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006276"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "endIntronDirection": "+",
          "endIntronOffset": 7252,
          "referenceAllele": "A",
          "start": 362,
          "startIntronDirection": "+",
          "startIntronOffset": 7251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055338",
      "geneNCBI_id": 102724508,
      "geneSymbol": "EFCAB13-DT",
      "hgvs": [
        "NR_110880.1:n.362+7252A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 226,
          "endIntronDirection": "+",
          "endIntronOffset": 7252,
          "referenceAllele": "A",
          "start": 226,
          "startIntronDirection": "+",
          "startIntronOffset": 7251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055338",
      "geneNCBI_id": 102724508,
      "geneSymbol": "EFCAB13-DT",
      "hgvs": [
        "NR_110881.1:n.226+7252A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3418,
          "referenceAllele": "T",
          "start": 3417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.3:c.*1016T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:n.*1016T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674746",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.*1016T="
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.*1016T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:n.*1016T="
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:n.*1016T="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}