{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1252746155",
  "communityStandardTitle": [
    "NM_001080433.2(CCDC85A):c.1317+11473C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6545572",
        "rs": 6545572
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 56354428,
          "referenceAllele": "C",
          "start": 56354427
        }
      ],
      "hgvs": [
        "NC_000002.12:g.56354428C=",
        "CM000664.2:g.56354428C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 56581563,
          "referenceAllele": "C",
          "start": 56581562
        }
      ],
      "hgvs": [
        "NC_000002.11:g.56581563C=",
        "CM000664.1:g.56581563C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 56435067,
          "referenceAllele": "C",
          "start": 56435066
        }
      ],
      "hgvs": [
        "NC_000002.10:g.56435067C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1952,
          "endIntronDirection": "+",
          "endIntronOffset": 11473,
          "referenceAllele": "C",
          "start": 1952,
          "startIntronDirection": "+",
          "startIntronOffset": 11472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029400",
      "geneNCBI_id": 114800,
      "geneSymbol": "CCDC85A",
      "hgvs": [
        "ENST00000407595.3:c.1317+11473C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384040.2:n.1317+11473C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754205",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000407595.3:c.1317+11473C="
          },
          "RefSeq": {
            "hgvs": "NM_001080433.2:c.1317+11473C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384040.2:n.1317+11473C="
          },
          "RefSeq": {
            "hgvs": "NP_001073902.1:n.1317+11473C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1819,
          "endIntronDirection": "+",
          "endIntronOffset": 11473,
          "referenceAllele": "C",
          "start": 1819,
          "startIntronDirection": "+",
          "startIntronOffset": 11472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029400",
      "geneNCBI_id": 114800,
      "geneSymbol": "CCDC85A",
      "hgvs": [
        "ENST00000407595.2:c.1317+11473C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384040.2:n.1317+11473C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280956"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1819,
          "endIntronDirection": "+",
          "endIntronOffset": 11473,
          "referenceAllele": "C",
          "start": 1819,
          "startIntronDirection": "+",
          "startIntronOffset": 11472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029400",
      "geneNCBI_id": 114800,
      "geneSymbol": "CCDC85A",
      "hgvs": [
        "NM_001080433.1:c.1317+11473C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073902.1:n.1317+11473C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010196"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1344,
          "endIntronDirection": "+",
          "endIntronOffset": 11473,
          "referenceAllele": "C",
          "start": 1344,
          "startIntronDirection": "+",
          "startIntronOffset": 11472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029400",
      "geneNCBI_id": 114800,
      "geneSymbol": "CCDC85A",
      "hgvs": [
        "XM_005264125.1:c.1317+11473C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264182.1:n.1317+11473C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1819,
          "endIntronDirection": "+",
          "endIntronOffset": 11473,
          "referenceAllele": "C",
          "start": 1819,
          "startIntronDirection": "+",
          "startIntronOffset": 11472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029400",
      "geneNCBI_id": 114800,
      "geneSymbol": "CCDC85A",
      "hgvs": [
        "NM_001348512.1:c.1317+11473C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001335441.1:n.1317+11473C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1819,
          "endIntronDirection": "+",
          "endIntronOffset": 11473,
          "referenceAllele": "C",
          "start": 1819,
          "startIntronDirection": "+",
          "startIntronOffset": 11472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029400",
      "geneNCBI_id": 114800,
      "geneSymbol": "CCDC85A",
      "hgvs": [
        "NM_001348513.1:c.1317+11473C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001335442.1:n.1317+11473C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1819,
          "endIntronDirection": "+",
          "endIntronOffset": 11473,
          "referenceAllele": "C",
          "start": 1819,
          "startIntronDirection": "+",
          "startIntronOffset": 11472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029400",
      "geneNCBI_id": 114800,
      "geneSymbol": "CCDC85A",
      "hgvs": [
        "NM_001348514.1:c.1317+11473C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001335443.1:n.1317+11473C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518250"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1819,
          "endIntronDirection": "+",
          "endIntronOffset": 11473,
          "referenceAllele": "C",
          "start": 1819,
          "startIntronDirection": "+",
          "startIntronOffset": 11472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029400",
      "geneNCBI_id": 114800,
      "geneSymbol": "CCDC85A",
      "hgvs": [
        "NM_001348515.1:c.1317+11473C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001335444.1:n.1317+11473C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1742,
          "endIntronDirection": "-",
          "endIntronOffset": 29837,
          "referenceAllele": "C",
          "start": 1742,
          "startIntronDirection": "-",
          "startIntronOffset": 29838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029400",
      "geneNCBI_id": 114800,
      "geneSymbol": "CCDC85A",
      "hgvs": [
        "NM_001348516.1:c.1241-29838C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001335445.1:n.1241-29838C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1323,
          "endIntronDirection": "+",
          "endIntronOffset": 11473,
          "referenceAllele": "C",
          "start": 1323,
          "startIntronDirection": "+",
          "startIntronOffset": 11472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029400",
      "geneNCBI_id": 114800,
      "geneSymbol": "CCDC85A",
      "hgvs": [
        "XM_024452642.1:c.1230+11473C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308410.1:n.1230+11473C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1952,
          "endIntronDirection": "+",
          "endIntronOffset": 11473,
          "referenceAllele": "C",
          "start": 1952,
          "startIntronDirection": "+",
          "startIntronOffset": 11472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029400",
      "geneNCBI_id": 114800,
      "geneSymbol": "CCDC85A",
      "hgvs": [
        "NM_001080433.2:c.1317+11473C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073902.1:n.1317+11473C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000407595.3:c.1317+11473C="
          },
          "RefSeq": {
            "hgvs": "NM_001080433.2:c.1317+11473C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384040.2:n.1317+11473C="
          },
          "RefSeq": {
            "hgvs": "NP_001073902.1:n.1317+11473C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}