{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16615415",
  "communityStandardTitle": [
    "NM_004360.5(CDH1):c.2324del (p.Gly775AlafsTer8)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1180831",
        "active": true,
        "id": "COSM1180831"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=402101[alleleid]",
        "alleleId": 402101,
        "preferredName": "NM_004360.5(CDH1):c.2324del (p.Gly775fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/406669",
        "RCV": [
          "RCV000464624",
          "RCV002451095",
          "RCV003328351"
        ],
        "variationId": 406669
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.68863585del?assembly=hg19",
        "id": "chr16:g.68863585del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.68863582del?assembly=hg19",
        "id": "chr16:g.68863582del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.68829682del?assembly=hg38",
        "id": "chr16:g.68829682del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060501248",
        "rs": 1060501248
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 68829682,
          "referenceAllele": "G",
          "start": 68829681
        }
      ],
      "hgvs": [
        "NC_000016.10:g.68829682del",
        "CM000678.2:g.68829682del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 68863585,
          "referenceAllele": "G",
          "start": 68863584
        }
      ],
      "hgvs": [
        "NC_000016.9:g.68863585del",
        "CM000678.1:g.68863585del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 67421086,
          "referenceAllele": "G",
          "start": 67421085
        }
      ],
      "hgvs": [
        "NC_000016.8:g.67421086del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 97391,
          "referenceAllele": "G",
          "start": 97390
        }
      ],
      "hgvs": [
        "NG_008021.1:g.97391del",
        "LRG_301:g.97391del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000781"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2448,
          "referenceAllele": "G",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000261769.10:c.2324del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261769.4:p.Gly775AlafsTer8",
        "hgvsWellDefined": "ENSP00000261769.4:p.[Gly775_Asp777del;Arg779_Val782delinsTrp;Arg784_Thr790del;Met792_Tyr797delinsGly;Pro799_Pro804delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261769.10:c.2324del"
          },
          "RefSeq": {
            "hgvs": "NM_004360.5:c.2324del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261769.4:p.Gly775AlafsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_004351.1:p.Gly775AlafsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2515,
          "referenceAllele": "G",
          "start": 2514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000261769.9:c.2324del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261769.4:p.Gly775AlafsTer8",
        "hgvsWellDefined": "ENSP00000261769.4:p.[Gly775_Asp777del;Arg779_Val782delinsTrp;Arg784_Thr790del;Met792_Tyr797delinsGly;Pro799_Pro804delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250839"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2205,
          "referenceAllele": "G",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000422392.6:c.2141del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414946.2:p.Gly714AlafsTer8",
        "hgvsWellDefined": "ENSP00000414946.2:p.[Gly714_Asp716del;Arg718_Val721delinsTrp;Arg723_Thr729del;Met731_Tyr736delinsGly;Pro738_Pro743delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287256"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 542,
          "referenceAllele": "G",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000562118.1:n.542del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376575"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2395,
          "referenceAllele": "G",
          "start": 2394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000562836.5:n.2395del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377038"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2299,
          "referenceAllele": "G",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000566510.5:c.*990del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458139.1:n.*990del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379490"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2282,
          "referenceAllele": "G",
          "start": 2281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000566612.5:c.*564del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454782.1:n.*564del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379559"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2511,
          "referenceAllele": "G",
          "start": 2510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000611625.4:c.2387del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481063.1:p.Gly796AlafsTer8",
        "hgvsWellDefined": "ENSP00000481063.1:p.[Gly796_Asp798del;Arg800_Val803delinsTrp;Arg805_Thr811del;Met813_Tyr818delinsGly;Pro820_Pro825delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400932"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1977,
          "endIntronDirection": "+",
          "endIntronOffset": 3128,
          "referenceAllele": "G",
          "start": 1977,
          "startIntronDirection": "+",
          "startIntronOffset": 3127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000612417.4:c.1853+3128del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478360.1:n.1853+3128del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401297"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1972,
          "endIntronDirection": "-",
          "endIntronOffset": 4520,
          "referenceAllele": "G",
          "start": 1972,
          "startIntronDirection": "-",
          "startIntronOffset": 4521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "ENST00000621016.4:c.1866-4521del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480664.1:n.1866-4521del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405076"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2448,
          "referenceAllele": "G",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.3:c.2324del",
        "LRG_301t1:c.2324del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Gly775AlafsTer8",
        "hgvsWellDefined": "NP_004351.1:p.[Gly775_Asp777del;Arg779_Val782delinsTrp;Arg784_Thr790del;Met792_Tyr797delinsGly;Pro799_Pro804delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029525"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2314,
          "referenceAllele": "G",
          "start": 2313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "XM_011523488.1:c.1589del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521790.1:p.Gly530AlafsTer8",
        "hgvsWellDefined": "XP_011521790.1:p.[Gly530_Asp532del;Arg534_Val537delinsTrp;Arg539_Thr545del;Met547_Tyr552delinsGly;Pro554_Pro559delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090625"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2601,
          "referenceAllele": "G",
          "start": 2600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "XM_011523489.1:c.1589del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521791.1:p.Gly530AlafsTer8",
        "hgvsWellDefined": "XP_011521791.1:p.[Gly530_Asp532del;Arg534_Val537delinsTrp;Arg539_Thr545del;Met547_Tyr552delinsGly;Pro554_Pro559delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090626"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2267,
          "referenceAllele": "G",
          "start": 2266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317184.1:c.2141del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304113.1:p.Gly714AlafsTer8",
        "hgvsWellDefined": "NP_001304113.1:p.[Gly714_Asp716del;Arg718_Val721delinsTrp;Arg723_Thr729del;Met731_Tyr736delinsGly;Pro738_Pro743delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512453"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2517,
          "referenceAllele": "G",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317185.1:c.776del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304114.1:p.Gly259AlafsTer8",
        "hgvsWellDefined": "NP_001304114.1:p.[Gly259_Asp261del;Arg263_Val266delinsTrp;Arg268_Thr274del;Met276_Tyr281delinsGly;Pro283_Pro288delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512454"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2304,
          "referenceAllele": "G",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317186.1:c.359del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304115.1:p.Gly120AlafsTer8",
        "hgvsWellDefined": "NP_001304115.1:p.[Gly120_Asp122del;Arg124_Val127delinsTrp;Arg129_Thr135del;Met137_Tyr142delinsGly;Pro144_Pro149delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512455"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2450,
          "referenceAllele": "G",
          "start": 2449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.4:c.2324del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Gly775AlafsTer8",
        "hgvsWellDefined": "NP_004351.1:p.[Gly775_Asp777del;Arg779_Val782delinsTrp;Arg784_Thr790del;Met792_Tyr797delinsGly;Pro799_Pro804delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525201"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2448,
          "referenceAllele": "G",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_004360.5:c.2324del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004351.1:p.Gly775AlafsTer8",
        "hgvsWellDefined": "NP_004351.1:p.[Gly775_Asp777del;Arg779_Val782delinsTrp;Arg784_Thr790del;Met792_Tyr797delinsGly;Pro799_Pro804delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261769.10:c.2324del"
          },
          "RefSeq": {
            "hgvs": "NM_004360.5:c.2324del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261769.4:p.Gly775AlafsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_004351.1:p.Gly775AlafsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2265,
          "referenceAllele": "G",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317184.2:c.2141del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304113.1:p.Gly714AlafsTer8",
        "hgvsWellDefined": "NP_001304113.1:p.[Gly714_Asp716del;Arg718_Val721delinsTrp;Arg723_Thr729del;Met731_Tyr736delinsGly;Pro738_Pro743delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684261"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2515,
          "referenceAllele": "G",
          "start": 2514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317185.2:c.776del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304114.1:p.Gly259AlafsTer8",
        "hgvsWellDefined": "NP_001304114.1:p.[Gly259_Asp261del;Arg263_Val266delinsTrp;Arg268_Thr274del;Met276_Tyr281delinsGly;Pro283_Pro288delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684262"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2302,
          "referenceAllele": "G",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001748",
      "geneNCBI_id": 999,
      "geneSymbol": "CDH1",
      "hgvs": [
        "NM_001317186.2:c.359del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304115.1:p.Gly120AlafsTer8",
        "hgvsWellDefined": "NP_001304115.1:p.[Gly120_Asp122del;Arg124_Val127delinsTrp;Arg129_Thr135del;Met137_Tyr142delinsGly;Pro144_Pro149delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684263"
    }
  ],
  "type": "nucleotide"
}