{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA217440",
  "communityStandardTitle": [
    "NM_006121.4(KRT1):c.1669_1689del (p.Ser557_Gly563del)"
  ],
  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1362564",
        "active": true,
        "id": "COSM1362564"
      }
    ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77536[alleleid]",
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        "preferredName": "NM_006121.4(KRT1):c.1669_1689del (p.Ser557_Gly563del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66639",
        "RCV": [
          "RCV000057077"
        ],
        "variationId": 66639
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-53069222-CACCTCCGGAGCCGTAGCTGCT-C",
        "id": "12-53069222-CACCTCCGGAGCCGTAGCTGCT-C",
        "variant": "12:53069222 CACCTCCGGAGCCGTAGCTGCT / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.53069235_53069255del?assembly=hg19",
        "id": "chr12:g.53069235_53069255del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.53069223_53069243del?assembly=hg19",
        "id": "chr12:g.53069223_53069243del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52675451_52675471del?assembly=hg38",
        "id": "chr12:g.52675451_52675471del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52675440_52675460del?assembly=hg38",
        "id": "chr12:g.52675440_52675460del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52675439_52675459del?assembly=hg38",
        "id": "chr12:g.52675439_52675459del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267607656",
        "rs": 267607656
      }
    ],
    "gnomAD_2": [
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        "@id": "http://gnomad.broadinstitute.org/variant/12-53069222-CACCTCCGGAGCCGTAGCTGCT-C?dataset=gnomad_r2_1",
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        "variant": "12:53069222 CACCTCCGGAGCCGTAGCTGCT / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-52675438-CACCTCCGGAGCCGTAGCTGCT-C?dataset=gnomad_r3",
        "id": "12-52675438-CACCTCCGGAGCCGTAGCTGCT-C",
        "variant": "12:52675438 CACCTCCGGAGCCGTAGCTGCT / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-52675438-CACCTCCGGAGCCGTAGCTGCT-C?dataset=gnomad_r4",
        "id": "12-52675438-CACCTCCGGAGCCGTAGCTGCT-C",
        "variant": "12:52675438 CACCTCCGGAGCCGTAGCTGCT / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 52675471,
          "referenceAllele": "GTAGCTGCTACCTCCGGAGCC",
          "start": 52675450
        }
      ],
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      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 53069255,
          "referenceAllele": "GTAGCTGCTACCTCCGGAGCC",
          "start": 53069234
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      ],
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      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 51355522,
          "referenceAllele": "GTAGCTGCTACCTCCGGAGCC",
          "start": 51355501
        }
      ],
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 9969,
          "referenceAllele": "TCCGGAGGTAGCAGCTACGGC",
          "start": 9948
        }
      ],
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS001057"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 9969,
          "referenceAllele": "TCCGGAGGTAGCAGCTACGGC",
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        }
      ],
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS706083"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
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          "end": 1748,
          "referenceAllele": "TCCGGAGGTAGCAGCTACGGC",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006412",
      "geneNCBI_id": 3848,
      "geneSymbol": "KRT1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000252244.3:p.Ser557_Gly563del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249800",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
            "hgvs": "NM_006121.4:c.1669_1689del"
          }
        },
        "protein": {
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          },
          "RefSeq": {
            "hgvs": "NP_006112.3:p.Ser557_Gly563del"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057493651",
      "coordinates": [
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          "end": 1748,
          "referenceAllele": "TCCGGAGGTAGCAGCTACGGC",
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      "geneSymbol": "KRT1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_006112.3:p.Ser557_Gly563del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057493651",
      "coordinates": [
        {
          "allele": "",
          "end": 1748,
          "referenceAllele": "TCCGGAGGTAGCAGCTACGGC",
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      ],
      "gene": "http://reg.genome.network/gene/GN006412",
      "geneNCBI_id": 3848,
      "geneSymbol": "KRT1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_006112.3:p.Ser557_Gly563del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS667300",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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          },
          "RefSeq": {
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          }
        },
        "protein": {
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          },
          "RefSeq": {
            "hgvs": "NP_006112.3:p.Ser557_Gly563del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}