{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1706624206",
  "communityStandardTitle": [
    "NM_001082971.2(DDC):c.1021+302C>G"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11575461",
        "rs": 11575461
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 50479485,
          "referenceAllele": "G",
          "start": 50479484
        }
      ],
      "hgvs": [
        "NC_000007.14:g.50479485G>C",
        "CM000669.2:g.50479485G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 50547183,
          "referenceAllele": "G",
          "start": 50547182
        }
      ],
      "hgvs": [
        "NC_000007.13:g.50547183G>C",
        "CM000669.1:g.50547183G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 50514677,
          "referenceAllele": "G",
          "start": 50514676
        }
      ],
      "hgvs": [
        "NC_000007.12:g.50514677G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 90972,
          "referenceAllele": "C",
          "start": 90971
        }
      ],
      "hgvs": [
        "NG_008742.1:g.90972C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001194"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1170,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 1170,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000444124.7:c.1021+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403644.2:n.1021+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755982",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000444124.7:c.1021+302C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001082971.2:c.1021+302C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403644.2:n.1021+302C>G"
          },
          "RefSeq": {
            "hgvs": "NP_001076440.2:n.1021+302C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1090,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 1090,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000357936.9:c.1021+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350616.5:n.1021+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264278"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 856,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 856,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000426377.5:c.787+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395069.1:n.787+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289188"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 663,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 663,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000430300.5:c.663+302C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS291077"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 776,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 776,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000431062.5:c.742+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399184.1:n.742+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291443"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1222,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 1222,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000444124.6:c.1021+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403644.2:n.1021+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 881,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 881,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000444733.5:c.*122+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393724.1:n.*122+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 177,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 177,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000494914.1:n.177+302C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 18,
          "endIntronDirection": "-",
          "endIntronOffset": 32187,
          "referenceAllele": "C",
          "start": 18,
          "startIntronDirection": "-",
          "startIntronOffset": 32188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013286",
      "geneNCBI_id": 63979,
      "geneSymbol": "FIGNL1",
      "hgvs": [
        "ENST00000613602.3:c.-10-32188C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481751.1:n.-10-32188C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 828,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 828,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000615193.4:c.742+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484104.1:n.742+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 963,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 963,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000617822.4:c.877+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478385.1:n.877+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 993,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 993,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000622873.4:c.907+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479110.1:n.907+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1107,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 1107,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_000790.3:c.1021+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000781.1:n.1021+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1222,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 1222,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001082971.1:c.1021+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001076440.1:n.1021+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010376"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 993,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 993,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242886.1:c.907+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229815.1:n.907+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018335"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 963,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 963,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242887.1:c.877+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229816.1:n.877+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018336"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 873,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242888.1:c.787+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229817.1:n.787+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018337"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 828,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 828,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242889.1:c.742+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229818.1:n.742+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1094,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 1094,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "XM_005271745.3:c.907+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271802.1:n.907+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 803,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 803,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "XM_011515161.1:c.670+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513463.1:n.670+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082381"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1111,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 1111,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "XM_005271745.4:c.907+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271802.1:n.907+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 979,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 979,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "XM_011515161.2:c.964+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513463.2:n.964+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543637"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1170,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 1170,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001082971.2:c.1021+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001076440.2:n.1021+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663330",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000444124.7:c.1021+302C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001082971.2:c.1021+302C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403644.2:n.1021+302C>G"
          },
          "RefSeq": {
            "hgvs": "NP_001076440.2:n.1021+302C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1107,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 1107,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_000790.4:c.1021+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000781.2:n.1021+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674950"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 873,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242888.2:c.787+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229817.2:n.787+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 993,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 993,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242886.2:c.907+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229815.2:n.907+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714409"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 963,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 963,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242887.2:c.877+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229816.2:n.877+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714410"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 828,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "C",
          "start": 828,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242889.2:c.742+302C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229818.2:n.742+302C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714411"
    }
  ],
  "type": "nucleotide"
}