{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2581278868",
  "communityStandardTitle": [
    "NM_001257.5(CDH13):c.781+63618A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11149566",
        "rs": 11149566
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 83408624,
          "referenceAllele": "A",
          "start": 83408623
        }
      ],
      "hgvs": [
        "NC_000016.10:g.83408624A=",
        "CM000678.2:g.83408624A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 83442229,
          "referenceAllele": "A",
          "start": 83442228
        }
      ],
      "hgvs": [
        "NC_000016.9:g.83442229A=",
        "CM000678.1:g.83442229A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 81999730,
          "referenceAllele": "A",
          "start": 81999729
        }
      ],
      "hgvs": [
        "NC_000016.8:g.81999730A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 786831,
          "referenceAllele": "A",
          "start": 786830
        }
      ],
      "hgvs": [
        "NG_052819.1:g.786831A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617190"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 905,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 905,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "ENST00000567109.6:c.781+63618A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479395.1:n.781+63618A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760514",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000567109.6:c.781+63618A="
          },
          "RefSeq": {
            "hgvs": "NM_001257.5:c.781+63618A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000479395.1:n.781+63618A="
          },
          "RefSeq": {
            "hgvs": "NP_001248.1:n.781+63618A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 1015,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "ENST00000268613.14:c.922+63618A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268613.10:n.922+63618A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 787,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "ENST00000428848.7:c.664+63618A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394557.3:n.664+63618A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 695,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 695,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "ENST00000539548.6:c.*413+63618A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442225.2:n.*413+63618A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 745,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 745,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "ENST00000566620.5:c.745+63618A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454435.3:n.745+63618A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 1071,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "ENST00000567109.5:c.781+63618A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479395.1:n.781+63618A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 698,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 698,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "ENST00000569454.1:n.698+63618A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 625,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 625,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "ENST00000622885.4:c.625+63618A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483719.1:n.625+63618A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1186,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 1186,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001220488.1:c.922+63618A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001207417.1:n.922+63618A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 963,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 963,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001220489.1:c.664+63618A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001207418.1:n.664+63618A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 871,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 871,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001220490.1:c.19+63618A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001207419.1:n.19+63618A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1080,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 1080,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001257.4:c.781+63618A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001248.1:n.781+63618A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 664,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 664,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "XM_011522804.1:c.478+63618A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521106.1:n.478+63618A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1111,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 1111,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "XM_011522805.1:c.922+63618A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521107.1:n.922+63618A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 690,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "XM_011522804.3:c.478+63618A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521106.1:n.478+63618A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1105,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 1105,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "XM_017022848.2:c.922+63618A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878337.1:n.922+63618A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573712"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 905,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 905,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001257.5:c.781+63618A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001248.1:n.781+63618A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000567109.6:c.781+63618A="
          },
          "RefSeq": {
            "hgvs": "NM_001257.5:c.781+63618A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000479395.1:n.781+63618A="
          },
          "RefSeq": {
            "hgvs": "NP_001248.1:n.781+63618A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 1011,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001220488.2:c.922+63618A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001207417.1:n.922+63618A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 788,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001220489.2:c.664+63618A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001207418.1:n.664+63618A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "endIntronDirection": "+",
          "endIntronOffset": 63618,
          "referenceAllele": "A",
          "start": 696,
          "startIntronDirection": "+",
          "startIntronOffset": 63617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001753",
      "geneNCBI_id": 1012,
      "geneSymbol": "CDH13",
      "hgvs": [
        "NM_001220490.2:c.19+63618A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001207419.1:n.19+63618A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680031"
    }
  ],
  "type": "nucleotide"
}