{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2229978162",
  "communityStandardTitle": [
    "NM_004360.5(CDH1):c.2494G= (p.Val832=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/35572355",
        "rs": 35572355
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 68833344,
          "referenceAllele": "G",
          "start": 68833343
        }
      ],
      "hgvs": [
        "NC_000016.10:g.68833344G=",
        "CM000678.2:g.68833344G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 68867247,
          "referenceAllele": "G",
          "start": 68867246
        }
      ],
      "hgvs": [
        "NC_000016.9:g.68867247G=",
        "CM000678.1:g.68867247G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 67424748,
          "referenceAllele": "G",
          "start": 67424747
        }
      ],
      "hgvs": [
        "NC_000016.8:g.67424748G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 101053,
          "referenceAllele": "G",
          "start": 101052
        }
      ],
      "hgvs": [
        "NG_008021.1:g.101053G=",
        "LRG_301:g.101053G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000781"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2618,
          "referenceAllele": "G",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000261769.10:c.2494G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261769.4:p.Val832="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261769.10:c.2494G="
          },
          "RefSeq": {
            "hgvs": "NM_004360.5:c.2494G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261769.4:p.Val832="
          },
          "RefSeq": {
            "hgvs": "NP_004351.1:p.Val832="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2685,
          "referenceAllele": "G",
          "start": 2684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000261769.9:c.2494G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261769.4:p.Val832="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2375,
          "referenceAllele": "G",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000422392.6:c.2311G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414946.2:p.Val771="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 712,
          "referenceAllele": "G",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000562118.1:n.712G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2565,
          "referenceAllele": "G",
          "start": 2564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000562836.5:n.2565G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2469,
          "referenceAllele": "G",
          "start": 2468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000566510.5:c.*1160G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458139.1:n.*1160G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2452,
          "referenceAllele": "G",
          "start": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000566612.5:c.*734G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454782.1:n.*734G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2681,
          "referenceAllele": "G",
          "start": 2680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000611625.4:c.2557G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481063.1:p.Val853="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400932"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1977,
          "endIntronDirection": "-",
          "endIntronOffset": 846,
          "referenceAllele": "G",
          "start": 1977,
          "startIntronDirection": "-",
          "startIntronOffset": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000612417.4:c.1854-847G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478360.1:n.1854-847G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401297"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1972,
          "endIntronDirection": "-",
          "endIntronOffset": 858,
          "referenceAllele": "G",
          "start": 1972,
          "startIntronDirection": "-",
          "startIntronOffset": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000621016.4:c.1866-859G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480664.1:n.1866-859G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829527406",
      "coordinates": [
        {
          "allele": "G",
          "end": 2618,
          "referenceAllele": "G",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.3:c.2494G=",
        "LRG_301t1:c.2494G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Val832="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029525"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2484,
          "referenceAllele": "G",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "XM_011523488.1:c.1759G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521790.1:p.Val587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090625"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2771,
          "referenceAllele": "G",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "XM_011523489.1:c.1759G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521791.1:p.Val587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090626"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826963354",
      "coordinates": [
        {
          "allele": "G",
          "end": 2437,
          "referenceAllele": "G",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317184.1:c.2311G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304113.1:p.Val771="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826965238",
      "coordinates": [
        {
          "allele": "G",
          "end": 2687,
          "referenceAllele": "G",
          "start": 2686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317185.1:c.946G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304114.1:p.Val316="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826966523",
      "coordinates": [
        {
          "allele": "G",
          "end": 2474,
          "referenceAllele": "G",
          "start": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317186.1:c.529G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304115.1:p.Val177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829527406",
      "coordinates": [
        {
          "allele": "G",
          "end": 2620,
          "referenceAllele": "G",
          "start": 2619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.4:c.2494G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Val832="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829527406",
      "coordinates": [
        {
          "allele": "G",
          "end": 2618,
          "referenceAllele": "G",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.5:c.2494G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Val832="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261769.10:c.2494G="
          },
          "RefSeq": {
            "hgvs": "NM_004360.5:c.2494G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261769.4:p.Val832="
          },
          "RefSeq": {
            "hgvs": "NP_004351.1:p.Val832="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826963354",
      "coordinates": [
        {
          "allele": "G",
          "end": 2435,
          "referenceAllele": "G",
          "start": 2434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317184.2:c.2311G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304113.1:p.Val771="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826965238",
      "coordinates": [
        {
          "allele": "G",
          "end": 2685,
          "referenceAllele": "G",
          "start": 2684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317185.2:c.946G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304114.1:p.Val316="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826966523",
      "coordinates": [
        {
          "allele": "G",
          "end": 2472,
          "referenceAllele": "G",
          "start": 2471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317186.2:c.529G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304115.1:p.Val177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684263"
    }
  ],
  "type": "nucleotide"
}