{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2229978127",
  "communityStandardTitle": [
    "NM_004360.5(CDH1):c.1679C= (p.Thr560=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/746481984",
        "rs": 746481984
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555516567",
        "rs": 1555516567
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 68819393,
          "referenceAllele": "C",
          "start": 68819392
        }
      ],
      "hgvs": [
        "NC_000016.10:g.68819393C=",
        "CM000678.2:g.68819393C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 68853296,
          "referenceAllele": "C",
          "start": 68853295
        }
      ],
      "hgvs": [
        "NC_000016.9:g.68853296C=",
        "CM000678.1:g.68853296C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 67410797,
          "referenceAllele": "C",
          "start": 67410796
        }
      ],
      "hgvs": [
        "NC_000016.8:g.67410797C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 87102,
          "referenceAllele": "C",
          "start": 87101
        }
      ],
      "hgvs": [
        "NG_008021.1:g.87102C=",
        "LRG_301:g.87102C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000781"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000261769.10:c.1679C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261769.4:p.Thr560="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261769.10:c.1679C="
          },
          "RefSeq": {
            "hgvs": "NM_004360.5:c.1679C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261769.4:p.Thr560="
          },
          "RefSeq": {
            "hgvs": "NP_004351.1:p.Thr560="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1870,
          "referenceAllele": "C",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000261769.9:c.1679C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261769.4:p.Thr560="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1560,
          "referenceAllele": "C",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000422392.6:c.1496C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414946.2:p.Thr499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000562836.5:n.1750C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1654,
          "referenceAllele": "C",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000566510.5:c.*345C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458139.1:n.*345C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1669,
          "endIntronDirection": "-",
          "endIntronOffset": 2607,
          "referenceAllele": "C",
          "start": 1669,
          "startIntronDirection": "-",
          "startIntronOffset": 2608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000566612.5:c.1566-2608C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454782.1:n.1566-2608C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1866,
          "referenceAllele": "C",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000611625.4:c.1742C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481063.1:p.Thr581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000612417.4:c.1679C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478360.1:p.Thr560="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1786,
          "referenceAllele": "C",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000621016.4:c.1679C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480664.1:p.Thr560="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829525268",
      "coordinates": [
        {
          "allele": "C",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.3:c.1679C=",
        "LRG_301t1:c.1679C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Thr560="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029525"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1669,
          "referenceAllele": "C",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "XM_011523488.1:c.944C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521790.1:p.Thr315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1956,
          "referenceAllele": "C",
          "start": 1955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "XM_011523489.1:c.944C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521791.1:p.Thr315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090626"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826961808",
      "coordinates": [
        {
          "allele": "C",
          "end": 1622,
          "referenceAllele": "C",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317184.1:c.1496C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304113.1:p.Thr499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826963950",
      "coordinates": [
        {
          "allele": "C",
          "end": 1872,
          "referenceAllele": "C",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317185.1:c.131C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304114.1:p.Thr44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1691,
          "endIntronDirection": "-",
          "endIntronOffset": 2607,
          "referenceAllele": "C",
          "start": 1691,
          "startIntronDirection": "-",
          "startIntronOffset": 2608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317186.1:c.-254-2608C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304115.1:n.-254-2608C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829525268",
      "coordinates": [
        {
          "allele": "C",
          "end": 1805,
          "referenceAllele": "C",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.4:c.1679C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Thr560="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829525268",
      "coordinates": [
        {
          "allele": "C",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.5:c.1679C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Thr560="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261769.10:c.1679C="
          },
          "RefSeq": {
            "hgvs": "NM_004360.5:c.1679C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261769.4:p.Thr560="
          },
          "RefSeq": {
            "hgvs": "NP_004351.1:p.Thr560="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826961808",
      "coordinates": [
        {
          "allele": "C",
          "end": 1620,
          "referenceAllele": "C",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317184.2:c.1496C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304113.1:p.Thr499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826963950",
      "coordinates": [
        {
          "allele": "C",
          "end": 1870,
          "referenceAllele": "C",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317185.2:c.131C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304114.1:p.Thr44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684262"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1689,
          "endIntronDirection": "-",
          "endIntronOffset": 2607,
          "referenceAllele": "C",
          "start": 1689,
          "startIntronDirection": "-",
          "startIntronOffset": 2608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317186.2:c.-254-2608C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001304115.1:n.-254-2608C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684263"
    }
  ],
  "type": "nucleotide"
}