{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA180983",
  "communityStandardTitle": [
    "NM_005228.5(EGFR):c.2311_2319dup (p.Asn771_His773dup)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=12381",
        "active": true,
        "id": "COSM12381"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=48920",
        "active": true,
        "id": "COSM48920"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178198[alleleid]",
        "alleleId": 178198,
        "preferredName": "NM_005228.5(EGFR):c.2311_2319dup (p.Asn771_His773dup)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/177911",
        "RCV": [
          "RCV000154568"
        ],
        "variationId": 177911
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.55249013_55249021dupAACCCCCAC?assembly=hg19",
        "id": "chr7:g.55249013_55249021dupAACCCCCAC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.55249021_55249022insAACCCCCAC?assembly=hg19",
        "id": "chr7:g.55249021_55249022insAACCCCCAC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.55249019_55249020insACAACCCCC?assembly=hg19",
        "id": "chr7:g.55249019_55249020insACAACCCCC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.55181320_55181328dupAACCCCCAC?assembly=hg38",
        "id": "chr7:g.55181320_55181328dupAACCCCCAC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.55181328_55181329insAACCCCCAC?assembly=hg38",
        "id": "chr7:g.55181328_55181329insAACCCCCAC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.55181326_55181327insACAACCCCC?assembly=hg38",
        "id": "chr7:g.55181326_55181327insACAACCCCC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397517115",
        "rs": 397517115
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 55181328,
          "referenceAllele": "",
          "start": 55181328
        }
      ],
      "hgvs": [
        "NC_000007.14:g.55181320_55181328dup",
        "CM000669.2:g.55181320_55181328dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 55249021,
          "referenceAllele": "",
          "start": 55249021
        }
      ],
      "hgvs": [
        "NC_000007.13:g.55249013_55249021dup",
        "CM000669.1:g.55249013_55249021dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 55216515,
          "referenceAllele": "",
          "start": 55216515
        }
      ],
      "hgvs": [
        "NC_000007.12:g.55216507_55216515dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 167297,
          "referenceAllele": "",
          "start": 167297
        }
      ],
      "hgvs": [
        "NG_007726.3:g.167289_167297dup",
        "LRG_304:g.167289_167297dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000672"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 2467,
          "referenceAllele": "",
          "start": 2467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000450046.2:c.2152_2160dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413354.2:p.His720_Val721insAsnProHis",
        "hgvsWellDefined": "ENSP00000413354.2:p.Asn718_His720dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904989"
    },
    {
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 668,
          "referenceAllele": "",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000700145.1:c.660_668dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910995"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573051107",
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 2580,
          "referenceAllele": "",
          "start": 2580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.7:c.2311_2319dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.His773_Val774insAsnProHis",
        "hgvsWellDefined": "ENSP00000275493.2:p.Asn771_His773dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.2311_2319dup"
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.2311_2319dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.His773_Val774insAsnProHis"
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.His773_Val774insAsnProHis"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573051107",
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 2496,
          "referenceAllele": "",
          "start": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.6:c.2311_2319dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.His773_Val774insAsnProHis",
        "hgvsWellDefined": "ENSP00000275493.2:p.Asn771_His773dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252621"
    },
    {
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 2162,
          "endIntronDirection": "+",
          "endIntronOffset": 8400,
          "referenceAllele": "",
          "start": 2162,
          "startIntronDirection": "+",
          "startIntronOffset": 8400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000442591.5:c.*28+8392_*28+8400dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410031.1:n.*28+8392_*28+8400dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296950"
    },
    {
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 2430,
          "referenceAllele": "",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000454757.6:c.2176_2184dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395243.3:p.His728_Val729insAsnProHis",
        "hgvsWellDefined": "ENSP00000395243.3:p.Asn726_His728dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302708"
    },
    {
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 2441,
          "referenceAllele": "",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000455089.5:c.2176_2184dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415559.1:p.His728_Val729insAsnProHis",
        "hgvsWellDefined": "ENSP00000415559.1:p.Asn726_His728dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA180985",
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 2565,
          "referenceAllele": "",
          "start": 2565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.3:c.2311_2319dup",
        "LRG_304t1:c.2311_2319dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.His773_Val774insAsnProHis",
        "hgvsWellDefined": "NP_005219.2:p.Asn771_His773dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030340"
    },
    {
      "coordinates": [
        {
          "allele": "GGGTTGTGG",
          "end": 1253,
          "referenceAllele": "",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040207",
      "geneNCBI_id": 100507500,
      "geneSymbol": "EGFR-AS1",
      "hgvs": [
        "NR_047551.1:n.1245_1253dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827388080",
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 2441,
          "referenceAllele": "",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.1:c.2176_2184dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.His728_Val729insAsnProHis",
        "hgvsWellDefined": "NP_001333826.1:p.Asn726_His728dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517697"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827389903",
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 2576,
          "referenceAllele": "",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.1:c.2311_2319dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.His773_Val774insAsnProHis",
        "hgvsWellDefined": "NP_001333827.1:p.Asn771_His773dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517698"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827391641",
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 2441,
          "referenceAllele": "",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.1:c.2176_2184dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.His728_Val729insAsnProHis",
        "hgvsWellDefined": "NP_001333828.1:p.Asn726_His728dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827393414",
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 2373,
          "referenceAllele": "",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.1:c.2152_2160dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.His720_Val721insAsnProHis",
        "hgvsWellDefined": "NP_001333829.1:p.Asn718_His720dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827395278",
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 1775,
          "referenceAllele": "",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.1:c.1510_1518dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:p.His506_Val507insAsnProHis",
        "hgvsWellDefined": "NP_001333870.1:p.Asn504_His506dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517714"
    },
    {
      "@id": "http://reg.genome.network/allele/PA180985",
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 2576,
          "referenceAllele": "",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.4:c.2311_2319dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.His773_Val774insAsnProHis",
        "hgvsWellDefined": "NP_005219.2:p.Asn771_His773dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA180985",
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 2580,
          "referenceAllele": "",
          "start": 2580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.5:c.2311_2319dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.His773_Val774insAsnProHis",
        "hgvsWellDefined": "NP_005219.2:p.Asn771_His773dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.2311_2319dup"
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.2311_2319dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.His773_Val774insAsnProHis"
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.His773_Val774insAsnProHis"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827388080",
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 2445,
          "referenceAllele": "",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.2:c.2176_2184dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.His728_Val729insAsnProHis",
        "hgvsWellDefined": "NP_001333826.1:p.Asn726_His728dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827389903",
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 2580,
          "referenceAllele": "",
          "start": 2580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.2:c.2311_2319dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.His773_Val774insAsnProHis",
        "hgvsWellDefined": "NP_001333827.1:p.Asn771_His773dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687443"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827393414",
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 2351,
          "referenceAllele": "",
          "start": 2351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.2:c.2152_2160dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.His720_Val721insAsnProHis",
        "hgvsWellDefined": "NP_001333829.1:p.Asn718_His720dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827395278",
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 1779,
          "referenceAllele": "",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.2:c.1510_1518dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:p.His506_Val507insAsnProHis",
        "hgvsWellDefined": "NP_001333870.1:p.Asn504_His506dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827391641",
      "coordinates": [
        {
          "allele": "AACCCCCAC",
          "end": 2445,
          "referenceAllele": "",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.2:c.2176_2184dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.His728_Val729insAsnProHis",
        "hgvsWellDefined": "NP_001333828.1:p.Asn726_His728dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719000"
    }
  ],
  "type": "nucleotide"
}