{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA645561528",
  "communityStandardTitle": [
    "NM_005228.5(EGFR):c.2239_2255delinsCAACA (p.Leu747_Ser752delinsGlnHis)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=133196",
        "active": true,
        "id": "COSM133196"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2128954789",
        "rs": 2128954789
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 55174792,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 55174775
        }
      ],
      "hgvs": [
        "NC_000007.14:g.55174776_55174792delinsCAACA",
        "CM000669.2:g.55174776_55174792delinsCAACA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 55242485,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 55242468
        }
      ],
      "hgvs": [
        "NC_000007.13:g.55242469_55242485delinsCAACA",
        "CM000669.1:g.55242469_55242485delinsCAACA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 55209979,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 55209962
        }
      ],
      "hgvs": [
        "NC_000007.12:g.55209963_55209979delinsCAACA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 160761,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 160744
        }
      ],
      "hgvs": [
        "NG_007726.3:g.160745_160761delinsCAACA",
        "LRG_304:g.160745_160761delinsCAACA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000672"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 2403,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000450046.2:c.2080_2096delinsCAACA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413354.2:p.Leu694_Ser699delinsGlnHis",
        "hgvsWellDefined": "ENSP00000413354.2:p.Leu694_Ser699delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904989"
    },
    {
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 604,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000700145.1:c.588_604delinsCAACA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910995"
    },
    {
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 2516,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 2499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.7:c.2239_2255delinsCAACA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.Leu747_Ser752delinsGlnHis",
        "hgvsWellDefined": "ENSP00000275493.2:p.Leu747_Ser752delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.2239_2255delinsCAACA"
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.2239_2255delinsCAACA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.Leu747_Ser752delinsGlnHis"
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.Leu747_Ser752delinsGlnHis"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 2432,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 2415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.6:c.2239_2255delinsCAACA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.Leu747_Ser752delinsGlnHis",
        "hgvsWellDefined": "ENSP00000275493.2:p.Leu747_Ser752delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252621"
    },
    {
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 2162,
          "endIntronDirection": "+",
          "endIntronOffset": 1864,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 2162,
          "startIntronDirection": "+",
          "startIntronOffset": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000442591.5:c.*28+1848_*28+1864delinsCAACA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410031.1:n.*28+1848_*28+1864delinsCAACA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296950"
    },
    {
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 2366,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 2349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000454757.6:c.2104_2120delinsCAACA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395243.3:p.Leu702_Ser707delinsGlnHis",
        "hgvsWellDefined": "ENSP00000395243.3:p.Leu702_Ser707delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302708"
    },
    {
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 2377,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 2360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000455089.5:c.2104_2120delinsCAACA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415559.1:p.Leu702_Ser707delinsGlnHis",
        "hgvsWellDefined": "ENSP00000415559.1:p.Leu702_Ser707delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074413229",
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 2501,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 2484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.3:c.2239_2255delinsCAACA",
        "LRG_304t1:c.2239_2255delinsCAACA"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Leu747_Ser752delinsGlnHis",
        "hgvsWellDefined": "NP_005219.2:p.Leu747_Ser752delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030340"
    },
    {
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 2377,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 2360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.1:c.2104_2120delinsCAACA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.Leu702_Ser707delinsGlnHis",
        "hgvsWellDefined": "NP_001333826.1:p.Leu702_Ser707delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517697"
    },
    {
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 2512,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 2495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.1:c.2239_2255delinsCAACA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.Leu747_Ser752delinsGlnHis",
        "hgvsWellDefined": "NP_001333827.1:p.Leu747_Ser752delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517698"
    },
    {
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 2377,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 2360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.1:c.2104_2120delinsCAACA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.Leu702_Ser707delinsGlnHis",
        "hgvsWellDefined": "NP_001333828.1:p.Leu702_Ser707delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517699"
    },
    {
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 2309,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 2292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.1:c.2080_2096delinsCAACA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.Leu694_Ser699delinsGlnHis",
        "hgvsWellDefined": "NP_001333829.1:p.Leu694_Ser699delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517700"
    },
    {
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 1711,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.1:c.1438_1454delinsCAACA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:p.Leu480_Ser485delinsGlnHis",
        "hgvsWellDefined": "NP_001333870.1:p.Leu480_Ser485delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517714"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074413229",
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 2512,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 2495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.4:c.2239_2255delinsCAACA"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Leu747_Ser752delinsGlnHis",
        "hgvsWellDefined": "NP_005219.2:p.Leu747_Ser752delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074413229",
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 2516,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 2499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.5:c.2239_2255delinsCAACA"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Leu747_Ser752delinsGlnHis",
        "hgvsWellDefined": "NP_005219.2:p.Leu747_Ser752delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.2239_2255delinsCAACA"
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.2239_2255delinsCAACA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.Leu747_Ser752delinsGlnHis"
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.Leu747_Ser752delinsGlnHis"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 2381,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 2364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.2:c.2104_2120delinsCAACA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.Leu702_Ser707delinsGlnHis",
        "hgvsWellDefined": "NP_001333826.1:p.Leu702_Ser707delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687442"
    },
    {
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 2516,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 2499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.2:c.2239_2255delinsCAACA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.Leu747_Ser752delinsGlnHis",
        "hgvsWellDefined": "NP_001333827.1:p.Leu747_Ser752delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687443"
    },
    {
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 2287,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.2:c.2080_2096delinsCAACA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.Leu694_Ser699delinsGlnHis",
        "hgvsWellDefined": "NP_001333829.1:p.Leu694_Ser699delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687444"
    },
    {
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 1715,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.2:c.1438_1454delinsCAACA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:p.Leu480_Ser485delinsGlnHis",
        "hgvsWellDefined": "NP_001333870.1:p.Leu480_Ser485delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687456"
    },
    {
      "coordinates": [
        {
          "allele": "CAACA",
          "end": 2381,
          "referenceAllele": "TTAAGAGAAGCAACATC",
          "start": 2364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.2:c.2104_2120delinsCAACA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.Leu702_Ser707delinsGlnHis",
        "hgvsWellDefined": "NP_001333828.1:p.Leu702_Ser707delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719000"
    }
  ],
  "type": "nucleotide"
}