{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16602563",
  "communityStandardTitle": [
    "NM_004119.3(FLT3):c.2503_2504delinsTT (p.Asp835Phe)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=19844",
        "active": true,
        "id": "COSM19844"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362983[alleleid]",
        "alleleId": 362983,
        "preferredName": "NM_004119.3(FLT3):c.2503_2504delinsTT (p.Asp835Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376104",
        "RCV": [
          "RCV000439080"
        ],
        "variationId": 376104
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519763",
        "rs": 1057519763
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "AA",
          "end": 28018505,
          "referenceAllele": "TC",
          "start": 28018503
        }
      ],
      "hgvs": [
        "NC_000013.11:g.28018504_28018505delinsAA",
        "CM000675.2:g.28018504_28018505delinsAA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "AA",
          "end": 28592642,
          "referenceAllele": "TC",
          "start": 28592640
        }
      ],
      "hgvs": [
        "NC_000013.10:g.28592641_28592642delinsAA",
        "CM000675.1:g.28592641_28592642delinsAA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "AA",
          "end": 27490642,
          "referenceAllele": "TC",
          "start": 27490640
        }
      ],
      "hgvs": [
        "NC_000013.9:g.27490641_27490642delinsAA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 87065,
          "referenceAllele": "GA",
          "start": 87063
        }
      ],
      "hgvs": [
        "NG_007066.1:g.87064_87065delinsTT",
        "LRG_457:g.87064_87065delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000446"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2570,
          "referenceAllele": "GA",
          "start": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "ENST00000241453.12:c.2503_2504delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241453.7:p.Asp835Phe",
        "hgvsWellDefined": "ENSP00000241453.7:p.Asp835Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741113",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000241453.12:c.2503_2504delinsTT"
          },
          "RefSeq": {
            "hgvs": "NM_004119.3:c.2503_2504delinsTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000241453.7:p.Asp835Phe"
          },
          "RefSeq": {
            "hgvs": "NP_004110.2:p.Asp835Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2586,
          "referenceAllele": "GA",
          "start": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "ENST00000241453.11:c.2503_2504delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241453.7:p.Asp835Phe",
        "hgvsWellDefined": "ENSP00000241453.7:p.Asp835Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249177"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2718,
          "referenceAllele": "GA",
          "start": 2716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "ENST00000380987.2:c.*415_*416delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370374.2:n.*415_*416delinsTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645480744",
      "coordinates": [
        {
          "allele": "TT",
          "end": 2586,
          "referenceAllele": "GA",
          "start": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "NM_004119.2:c.2503_2504delinsTT",
        "LRG_457t1:c.2503_2504delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_004110.2:p.Asp835Phe",
        "hgvsWellDefined": "NP_004110.2:p.Asp835Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029308"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2718,
          "referenceAllele": "GA",
          "start": 2716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "NR_130706.1:n.2717_2718delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056421"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2579,
          "referenceAllele": "GA",
          "start": 2577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_011535015.1:c.2446_2447delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533317.1:p.Asp816Phe",
        "hgvsWellDefined": "XP_011533317.1:p.Asp816Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102025"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2198,
          "referenceAllele": "GA",
          "start": 2196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_011535016.1:c.1978_1979delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533318.1:p.Asp660Phe",
        "hgvsWellDefined": "XP_011533318.1:p.Asp660Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102026"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2188,
          "referenceAllele": "GA",
          "start": 2186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_011535017.1:c.1978_1979delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533319.1:p.Asp660Phe",
        "hgvsWellDefined": "XP_011533319.1:p.Asp660Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102027"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2106,
          "referenceAllele": "GA",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_011535018.1:c.1978_1979delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533320.1:p.Asp660Phe",
        "hgvsWellDefined": "XP_011533320.1:p.Asp660Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102028"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2585,
          "referenceAllele": "GA",
          "start": 2583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_011535015.2:c.2446_2447delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533317.1:p.Asp816Phe",
        "hgvsWellDefined": "XP_011533317.1:p.Asp816Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551875"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2488,
          "referenceAllele": "GA",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_011535017.2:c.1978_1979delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533319.1:p.Asp660Phe",
        "hgvsWellDefined": "XP_011533319.1:p.Asp660Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551876"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2096,
          "referenceAllele": "GA",
          "start": 2094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_011535018.2:c.1978_1979delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533320.1:p.Asp660Phe",
        "hgvsWellDefined": "XP_011533320.1:p.Asp660Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551877"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2365,
          "referenceAllele": "GA",
          "start": 2363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_017020486.1:c.2287_2288delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875975.1:p.Asp763Phe",
        "hgvsWellDefined": "XP_016875975.1:p.Asp763Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571967"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2659,
          "referenceAllele": "GA",
          "start": 2657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_017020487.1:c.1978_1979delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875976.1:p.Asp660Phe",
        "hgvsWellDefined": "XP_016875976.1:p.Asp660Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571968"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2352,
          "referenceAllele": "GA",
          "start": 2350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_017020488.1:c.1624_1625delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875977.1:p.Asp542Phe",
        "hgvsWellDefined": "XP_016875977.1:p.Asp542Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571969"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2447,
          "referenceAllele": "GA",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_017020489.1:c.1606_1607delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875978.1:p.Asp536Phe",
        "hgvsWellDefined": "XP_016875978.1:p.Asp536Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645480744",
      "coordinates": [
        {
          "allele": "TT",
          "end": 2570,
          "referenceAllele": "GA",
          "start": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "NM_004119.3:c.2503_2504delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_004110.2:p.Asp835Phe",
        "hgvsWellDefined": "NP_004110.2:p.Asp835Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696052",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000241453.12:c.2503_2504delinsTT"
          },
          "RefSeq": {
            "hgvs": "NM_004119.3:c.2503_2504delinsTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000241453.7:p.Asp835Phe"
          },
          "RefSeq": {
            "hgvs": "NP_004110.2:p.Asp835Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2702,
          "referenceAllele": "GA",
          "start": 2700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "NR_130706.2:n.2701_2702delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703334"
    }
  ],
  "type": "nucleotide"
}