{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA175996",
  "communityStandardTitle": [
    "NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6223",
        "active": true,
        "id": "COSM6223"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=174234[alleleid]",
        "alleleId": 174234,
        "preferredName": "NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/163343",
        "RCV": [
          "RCV000150617",
          "RCV002514895",
          "RCV003128584"
        ],
        "variationId": 163343
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.55242465_55242479del?assembly=hg19",
        "id": "chr7:g.55242465_55242479del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.55174772_55174786del?assembly=hg38",
        "id": "chr7:g.55174772_55174786del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913421",
        "rs": 121913421
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 55174786,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 55174771
        }
      ],
      "hgvs": [
        "NC_000007.14:g.55174772_55174786del",
        "CM000669.2:g.55174772_55174786del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 55242479,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 55242464
        }
      ],
      "hgvs": [
        "NC_000007.13:g.55242465_55242479del",
        "CM000669.1:g.55242465_55242479del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 55209973,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 55209958
        }
      ],
      "hgvs": [
        "NC_000007.12:g.55209959_55209973del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 160755,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 160740
        }
      ],
      "hgvs": [
        "NG_007726.3:g.160741_160755del",
        "LRG_304:g.160741_160755del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000672"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2397,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000450046.2:c.2076_2090del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413354.2:p.Glu693_Ala697del",
        "hgvsWellDefined": "ENSP00000413354.2:p.Glu693_Ala697del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904989"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 598,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000700145.1:c.584_598del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910995"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2510,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 2495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.7:c.2235_2249del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.Glu746_Ala750del",
        "hgvsWellDefined": "ENSP00000275493.2:p.Glu746_Ala750del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.2235_2249del"
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.2235_2249del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.Glu746_Ala750del"
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.Glu746_Ala750del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2426,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 2411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.6:c.2235_2249del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.Glu746_Ala750del",
        "hgvsWellDefined": "ENSP00000275493.2:p.Glu746_Ala750del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252621"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2162,
          "endIntronDirection": "+",
          "endIntronOffset": 1858,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 2162,
          "startIntronDirection": "+",
          "startIntronOffset": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000442591.5:c.*28+1844_*28+1858del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410031.1:n.*28+1844_*28+1858del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296950"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2360,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 2345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000454757.6:c.2100_2114del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395243.3:p.Glu701_Ala705del",
        "hgvsWellDefined": "ENSP00000395243.3:p.Glu701_Ala705del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302708"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2371,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 2356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000455089.5:c.2100_2114del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415559.1:p.Glu701_Ala705del",
        "hgvsWellDefined": "ENSP00000415559.1:p.Glu701_Ala705del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA135796",
      "coordinates": [
        {
          "allele": "",
          "end": 2495,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 2480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.3:c.2235_2249del",
        "LRG_304t1:c.2235_2249del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Glu746_Ala750del",
        "hgvsWellDefined": "NP_005219.2:p.Glu746_Ala750del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827387987",
      "coordinates": [
        {
          "allele": "",
          "end": 2371,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 2356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.1:c.2100_2114del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.Glu701_Ala705del",
        "hgvsWellDefined": "NP_001333826.1:p.Glu701_Ala705del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517697"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827389816",
      "coordinates": [
        {
          "allele": "",
          "end": 2506,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.1:c.2235_2249del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.Glu746_Ala750del",
        "hgvsWellDefined": "NP_001333827.1:p.Glu746_Ala750del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517698"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827391548",
      "coordinates": [
        {
          "allele": "",
          "end": 2371,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 2356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.1:c.2100_2114del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.Glu701_Ala705del",
        "hgvsWellDefined": "NP_001333828.1:p.Glu701_Ala705del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827393322",
      "coordinates": [
        {
          "allele": "",
          "end": 2303,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.1:c.2076_2090del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.Glu693_Ala697del",
        "hgvsWellDefined": "NP_001333829.1:p.Glu693_Ala697del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827395189",
      "coordinates": [
        {
          "allele": "",
          "end": 1705,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.1:c.1434_1448del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:p.Glu479_Ala483del",
        "hgvsWellDefined": "NP_001333870.1:p.Glu479_Ala483del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517714"
    },
    {
      "@id": "http://reg.genome.network/allele/PA135796",
      "coordinates": [
        {
          "allele": "",
          "end": 2506,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.4:c.2235_2249del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Glu746_Ala750del",
        "hgvsWellDefined": "NP_005219.2:p.Glu746_Ala750del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA135796",
      "coordinates": [
        {
          "allele": "",
          "end": 2510,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 2495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.5:c.2235_2249del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Glu746_Ala750del",
        "hgvsWellDefined": "NP_005219.2:p.Glu746_Ala750del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.2235_2249del"
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.2235_2249del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.Glu746_Ala750del"
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.Glu746_Ala750del"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827387987",
      "coordinates": [
        {
          "allele": "",
          "end": 2375,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 2360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.2:c.2100_2114del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.Glu701_Ala705del",
        "hgvsWellDefined": "NP_001333826.1:p.Glu701_Ala705del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827389816",
      "coordinates": [
        {
          "allele": "",
          "end": 2510,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 2495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.2:c.2235_2249del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.Glu746_Ala750del",
        "hgvsWellDefined": "NP_001333827.1:p.Glu746_Ala750del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687443"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827393322",
      "coordinates": [
        {
          "allele": "",
          "end": 2281,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 2266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.2:c.2076_2090del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.Glu693_Ala697del",
        "hgvsWellDefined": "NP_001333829.1:p.Glu693_Ala697del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827395189",
      "coordinates": [
        {
          "allele": "",
          "end": 1709,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.2:c.1434_1448del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:p.Glu479_Ala483del",
        "hgvsWellDefined": "NP_001333870.1:p.Glu479_Ala483del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827391548",
      "coordinates": [
        {
          "allele": "",
          "end": 2375,
          "referenceAllele": "GGAATTAAGAGAAGC",
          "start": 2360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.2:c.2100_2114del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.Glu701_Ala705del",
        "hgvsWellDefined": "NP_001333828.1:p.Glu701_Ala705del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719000"
    }
  ],
  "type": "nucleotide"
}