{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA163797",
  "communityStandardTitle": [
    "NM_004360.5(CDH1):c.2396C>G (p.Pro799Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=150585[alleleid]",
        "alleleId": 150585,
        "preferredName": "NM_004360.5(CDH1):c.2396C>G (p.Pro799Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/140871",
        "RCV": [
          "RCV000129091",
          "RCV000167901",
          "RCV001262763",
          "RCV003328205"
        ],
        "variationId": 140871
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.68863657C>G?assembly=hg19",
        "id": "chr16:g.68863657C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.68829754C>G?assembly=hg38",
        "id": "chr16:g.68829754C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587781335",
        "rs": 587781335
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 68829754,
          "referenceAllele": "C",
          "start": 68829753
        }
      ],
      "hgvs": [
        "NC_000016.10:g.68829754C>G",
        "CM000678.2:g.68829754C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 68863657,
          "referenceAllele": "C",
          "start": 68863656
        }
      ],
      "hgvs": [
        "NC_000016.9:g.68863657C>G",
        "CM000678.1:g.68863657C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 67421158,
          "referenceAllele": "C",
          "start": 67421157
        }
      ],
      "hgvs": [
        "NC_000016.8:g.67421158C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 97463,
          "referenceAllele": "C",
          "start": 97462
        }
      ],
      "hgvs": [
        "NG_008021.1:g.97463C>G",
        "LRG_301:g.97463C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000781"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2520,
          "referenceAllele": "C",
          "start": 2519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000261769.10:c.2396C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261769.4:p.Pro799Arg",
        "hgvsWellDefined": "ENSP00000261769.4:p.Pro799Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261769.10:c.2396C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004360.5:c.2396C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261769.4:p.Pro799Arg"
          },
          "RefSeq": {
            "hgvs": "NP_004351.1:p.Pro799Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2587,
          "referenceAllele": "C",
          "start": 2586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000261769.9:c.2396C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261769.4:p.Pro799Arg",
        "hgvsWellDefined": "ENSP00000261769.4:p.Pro799Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2277,
          "referenceAllele": "C",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000422392.6:c.2213C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414946.2:p.Pro738Arg",
        "hgvsWellDefined": "ENSP00000414946.2:p.Pro738Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 614,
          "referenceAllele": "C",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000562118.1:n.614C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2467,
          "referenceAllele": "C",
          "start": 2466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000562836.5:n.2467C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2371,
          "referenceAllele": "C",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000566510.5:c.*1062C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458139.1:n.*1062C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2354,
          "referenceAllele": "C",
          "start": 2353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000566612.5:c.*636C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454782.1:n.*636C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2583,
          "referenceAllele": "C",
          "start": 2582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000611625.4:c.2459C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481063.1:p.Pro820Arg",
        "hgvsWellDefined": "ENSP00000481063.1:p.Pro820Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400932"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1977,
          "endIntronDirection": "+",
          "endIntronOffset": 3200,
          "referenceAllele": "C",
          "start": 1977,
          "startIntronDirection": "+",
          "startIntronOffset": 3199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000612417.4:c.1853+3200C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478360.1:n.1853+3200C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401297"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1972,
          "endIntronDirection": "-",
          "endIntronOffset": 4448,
          "referenceAllele": "C",
          "start": 1972,
          "startIntronDirection": "-",
          "startIntronOffset": 4449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000621016.4:c.1866-4449C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480664.1:n.1866-4449C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA163799",
      "coordinates": [
        {
          "allele": "G",
          "end": 2520,
          "referenceAllele": "C",
          "start": 2519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.3:c.2396C>G",
        "LRG_301t1:c.2396C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Pro799Arg",
        "hgvsWellDefined": "NP_004351.1:p.Pro799Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029525"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2386,
          "referenceAllele": "C",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "XM_011523488.1:c.1661C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521790.1:p.Pro554Arg",
        "hgvsWellDefined": "XP_011521790.1:p.Pro554Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090625"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2673,
          "referenceAllele": "C",
          "start": 2672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "XM_011523489.1:c.1661C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521791.1:p.Pro554Arg",
        "hgvsWellDefined": "XP_011521791.1:p.Pro554Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090626"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826963172",
      "coordinates": [
        {
          "allele": "G",
          "end": 2339,
          "referenceAllele": "C",
          "start": 2338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317184.1:c.2213C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304113.1:p.Pro738Arg",
        "hgvsWellDefined": "NP_001304113.1:p.Pro738Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826965117",
      "coordinates": [
        {
          "allele": "G",
          "end": 2589,
          "referenceAllele": "C",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317185.1:c.848C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304114.1:p.Pro283Arg",
        "hgvsWellDefined": "NP_001304114.1:p.Pro283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826966330",
      "coordinates": [
        {
          "allele": "G",
          "end": 2376,
          "referenceAllele": "C",
          "start": 2375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317186.1:c.431C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304115.1:p.Pro144Arg",
        "hgvsWellDefined": "NP_001304115.1:p.Pro144Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA163799",
      "coordinates": [
        {
          "allele": "G",
          "end": 2522,
          "referenceAllele": "C",
          "start": 2521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.4:c.2396C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Pro799Arg",
        "hgvsWellDefined": "NP_004351.1:p.Pro799Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA163799",
      "coordinates": [
        {
          "allele": "G",
          "end": 2520,
          "referenceAllele": "C",
          "start": 2519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.5:c.2396C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Pro799Arg",
        "hgvsWellDefined": "NP_004351.1:p.Pro799Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261769.10:c.2396C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004360.5:c.2396C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261769.4:p.Pro799Arg"
          },
          "RefSeq": {
            "hgvs": "NP_004351.1:p.Pro799Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826963172",
      "coordinates": [
        {
          "allele": "G",
          "end": 2337,
          "referenceAllele": "C",
          "start": 2336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317184.2:c.2213C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304113.1:p.Pro738Arg",
        "hgvsWellDefined": "NP_001304113.1:p.Pro738Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826965117",
      "coordinates": [
        {
          "allele": "G",
          "end": 2587,
          "referenceAllele": "C",
          "start": 2586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317185.2:c.848C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304114.1:p.Pro283Arg",
        "hgvsWellDefined": "NP_001304114.1:p.Pro283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826966330",
      "coordinates": [
        {
          "allele": "G",
          "end": 2374,
          "referenceAllele": "C",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317186.2:c.431C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304115.1:p.Pro144Arg",
        "hgvsWellDefined": "NP_001304115.1:p.Pro144Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684263"
    }
  ],
  "type": "nucleotide"
}