{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2229979343",
  "communityStandardTitle": [
    "NM_004360.5(CDH1):c.*589C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/8049282",
        "rs": 8049282
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 68834088,
          "referenceAllele": "C",
          "start": 68834087
        }
      ],
      "hgvs": [
        "NC_000016.10:g.68834088C=",
        "CM000678.2:g.68834088C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 68867991,
          "referenceAllele": "C",
          "start": 68867990
        }
      ],
      "hgvs": [
        "NC_000016.9:g.68867991C=",
        "CM000678.1:g.68867991C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 67425492,
          "referenceAllele": "C",
          "start": 67425491
        }
      ],
      "hgvs": [
        "NC_000016.8:g.67425492C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 101797,
          "referenceAllele": "C",
          "start": 101796
        }
      ],
      "hgvs": [
        "NG_008021.1:g.101797C=",
        "LRG_301:g.101797C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000781"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3362,
          "referenceAllele": "C",
          "start": 3361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000261769.10:c.*589C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261769.4:n.*589C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261769.10:c.*589C="
          },
          "RefSeq": {
            "hgvs": "NM_004360.5:c.*589C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261769.4:n.*589C="
          },
          "RefSeq": {
            "hgvs": "NP_004351.1:n.*589C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3429,
          "referenceAllele": "C",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000261769.9:c.*589C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261769.4:n.*589C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3196,
          "referenceAllele": "C",
          "start": 3195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000566612.5:c.*1478C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454782.1:n.*1478C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3425,
          "referenceAllele": "C",
          "start": 3424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000611625.4:c.*589C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481063.1:n.*589C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1977,
          "endIntronDirection": "-",
          "endIntronOffset": 102,
          "referenceAllele": "C",
          "start": 1977,
          "startIntronDirection": "-",
          "startIntronOffset": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000612417.4:c.1854-103C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478360.1:n.1854-103C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1972,
          "endIntronDirection": "-",
          "endIntronOffset": 114,
          "referenceAllele": "C",
          "start": 1972,
          "startIntronDirection": "-",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000621016.4:c.1866-115C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480664.1:n.1866-115C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405076"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3362,
          "referenceAllele": "C",
          "start": 3361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.3:c.*589C=",
        "LRG_301t1:c.*589C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:n.*589C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029525"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3228,
          "referenceAllele": "C",
          "start": 3227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "XM_011523488.1:c.*589C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521790.1:n.*589C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3515,
          "referenceAllele": "C",
          "start": 3514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "XM_011523489.1:c.*589C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521791.1:n.*589C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3181,
          "referenceAllele": "C",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317184.1:c.*589C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304113.1:n.*589C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3431,
          "referenceAllele": "C",
          "start": 3430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317185.1:c.*589C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304114.1:n.*589C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3218,
          "referenceAllele": "C",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317186.1:c.*589C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304115.1:n.*589C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512455"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3364,
          "referenceAllele": "C",
          "start": 3363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.4:c.*589C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:n.*589C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525201"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3362,
          "referenceAllele": "C",
          "start": 3361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.5:c.*589C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:n.*589C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261769.10:c.*589C="
          },
          "RefSeq": {
            "hgvs": "NM_004360.5:c.*589C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261769.4:n.*589C="
          },
          "RefSeq": {
            "hgvs": "NP_004351.1:n.*589C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3179,
          "referenceAllele": "C",
          "start": 3178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317184.2:c.*589C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304113.1:n.*589C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684261"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3429,
          "referenceAllele": "C",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317185.2:c.*589C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304114.1:n.*589C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684262"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3216,
          "referenceAllele": "C",
          "start": 3215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317186.2:c.*589C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304115.1:n.*589C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684263"
    }
  ],
  "type": "nucleotide"
}