{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1616386008",
  "communityStandardTitle": [
    "NM_016356.5(DCDC2):c.923-1605C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/948965557",
        "rs": 948965557
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 24206707,
          "referenceAllele": "G",
          "start": 24206706
        }
      ],
      "hgvs": [
        "NC_000006.12:g.24206707G=",
        "CM000668.2:g.24206707G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 24206935,
          "referenceAllele": "G",
          "start": 24206934
        }
      ],
      "hgvs": [
        "NC_000006.11:g.24206935G=",
        "CM000668.1:g.24206935G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 24314914,
          "referenceAllele": "G",
          "start": 24314913
        }
      ],
      "hgvs": [
        "NC_000006.10:g.24314914G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 156346,
          "referenceAllele": "C",
          "start": 156345
        }
      ],
      "hgvs": [
        "NG_012829.1:g.156346C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002562"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 181586,
          "referenceAllele": "C",
          "start": 181585
        }
      ],
      "hgvs": [
        "NG_012829.2:g.181586C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616189"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1231,
          "endIntronDirection": "-",
          "endIntronOffset": 1604,
          "referenceAllele": "C",
          "start": 1231,
          "startIntronDirection": "-",
          "startIntronOffset": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "ENST00000378454.8:c.923-1605C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367715.3:n.923-1605C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752086",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378454.8:c.923-1605C="
          },
          "RefSeq": {
            "hgvs": "NM_016356.5:c.923-1605C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367715.3:n.923-1605C="
          },
          "RefSeq": {
            "hgvs": "NP_057440.2:n.923-1605C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1224,
          "endIntronDirection": "-",
          "endIntronOffset": 1604,
          "referenceAllele": "C",
          "start": 1224,
          "startIntronDirection": "-",
          "startIntronOffset": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "ENST00000378454.7:c.923-1605C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367715.3:n.923-1605C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1131,
          "endIntronDirection": "-",
          "endIntronOffset": 1604,
          "referenceAllele": "C",
          "start": 1131,
          "startIntronDirection": "-",
          "startIntronOffset": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_001195610.1:c.923-1605C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182539.1:n.923-1605C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016643"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1224,
          "endIntronDirection": "-",
          "endIntronOffset": 1604,
          "referenceAllele": "C",
          "start": 1224,
          "startIntronDirection": "-",
          "startIntronOffset": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_016356.4:c.923-1605C="
      ],
      "proteinEffect": {
        "hgvs": "NP_057440.2:n.923-1605C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1231,
          "endIntronDirection": "-",
          "endIntronOffset": 1604,
          "referenceAllele": "C",
          "start": 1231,
          "startIntronDirection": "-",
          "startIntronOffset": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_016356.5:c.923-1605C="
      ],
      "proteinEffect": {
        "hgvs": "NP_057440.2:n.923-1605C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669100",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378454.8:c.923-1605C="
          },
          "RefSeq": {
            "hgvs": "NM_016356.5:c.923-1605C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367715.3:n.923-1605C="
          },
          "RefSeq": {
            "hgvs": "NP_057440.2:n.923-1605C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1131,
          "endIntronDirection": "-",
          "endIntronOffset": 1604,
          "referenceAllele": "C",
          "start": 1131,
          "startIntronDirection": "-",
          "startIntronOffset": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_001195610.2:c.923-1605C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182539.1:n.923-1605C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713826"
    }
  ],
  "type": "nucleotide"
}