{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16602449",
  "communityStandardTitle": [
    "NM_004119.3(FLT3):c.2505T>A (p.Asp835Glu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM787"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362851[alleleid]",
        "alleleId": 362851,
        "preferredName": "NM_004119.3(FLT3):c.2505T>A (p.Asp835Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375972",
        "RCV": [
          "RCV000424615"
        ],
        "variationId": 375972
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.28592640A>T?assembly=hg19",
        "id": "chr13:g.28592640A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.28018503A>T?assembly=hg38",
        "id": "chr13:g.28018503A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913487",
        "rs": 121913487
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 28018503,
          "referenceAllele": "A",
          "start": 28018502
        }
      ],
      "hgvs": [
        "NC_000013.11:g.28018503A>T",
        "CM000675.2:g.28018503A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 28592640,
          "referenceAllele": "A",
          "start": 28592639
        }
      ],
      "hgvs": [
        "NC_000013.10:g.28592640A>T",
        "CM000675.1:g.28592640A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 27490640,
          "referenceAllele": "A",
          "start": 27490639
        }
      ],
      "hgvs": [
        "NC_000013.9:g.27490640A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 87066,
          "referenceAllele": "T",
          "start": 87065
        }
      ],
      "hgvs": [
        "NG_007066.1:g.87066T>A",
        "LRG_457:g.87066T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000446"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2571,
          "referenceAllele": "T",
          "start": 2570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "ENST00000241453.12:c.2505T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241453.7:p.Asp835Glu",
        "hgvsWellDefined": "ENSP00000241453.7:p.Asp835Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741113",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000241453.12:c.2505T>A"
          },
          "RefSeq": {
            "hgvs": "NM_004119.3:c.2505T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000241453.7:p.Asp835Glu"
          },
          "RefSeq": {
            "hgvs": "NP_004110.2:p.Asp835Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2587,
          "referenceAllele": "T",
          "start": 2586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "ENST00000241453.11:c.2505T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241453.7:p.Asp835Glu",
        "hgvsWellDefined": "ENSP00000241453.7:p.Asp835Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2719,
          "referenceAllele": "T",
          "start": 2718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "ENST00000380987.2:c.*417T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370374.2:n.*417T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645480801",
      "coordinates": [
        {
          "allele": "A",
          "end": 2587,
          "referenceAllele": "T",
          "start": 2586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "NM_004119.2:c.2505T>A",
        "LRG_457t1:c.2505T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004110.2:p.Asp835Glu",
        "hgvsWellDefined": "NP_004110.2:p.Asp835Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2719,
          "referenceAllele": "T",
          "start": 2718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "NR_130706.1:n.2719T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2580,
          "referenceAllele": "T",
          "start": 2579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_011535015.1:c.2448T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533317.1:p.Asp816Glu",
        "hgvsWellDefined": "XP_011533317.1:p.Asp816Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2199,
          "referenceAllele": "T",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_011535016.1:c.1980T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533318.1:p.Asp660Glu",
        "hgvsWellDefined": "XP_011533318.1:p.Asp660Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2189,
          "referenceAllele": "T",
          "start": 2188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_011535017.1:c.1980T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533319.1:p.Asp660Glu",
        "hgvsWellDefined": "XP_011533319.1:p.Asp660Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102027"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2107,
          "referenceAllele": "T",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_011535018.1:c.1980T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533320.1:p.Asp660Glu",
        "hgvsWellDefined": "XP_011533320.1:p.Asp660Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2586,
          "referenceAllele": "T",
          "start": 2585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_011535015.2:c.2448T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533317.1:p.Asp816Glu",
        "hgvsWellDefined": "XP_011533317.1:p.Asp816Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2489,
          "referenceAllele": "T",
          "start": 2488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_011535017.2:c.1980T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533319.1:p.Asp660Glu",
        "hgvsWellDefined": "XP_011533319.1:p.Asp660Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_011535018.2:c.1980T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533320.1:p.Asp660Glu",
        "hgvsWellDefined": "XP_011533320.1:p.Asp660Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2366,
          "referenceAllele": "T",
          "start": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_017020486.1:c.2289T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875975.1:p.Asp763Glu",
        "hgvsWellDefined": "XP_016875975.1:p.Asp763Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2660,
          "referenceAllele": "T",
          "start": 2659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_017020487.1:c.1980T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875976.1:p.Asp660Glu",
        "hgvsWellDefined": "XP_016875976.1:p.Asp660Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2353,
          "referenceAllele": "T",
          "start": 2352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_017020488.1:c.1626T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875977.1:p.Asp542Glu",
        "hgvsWellDefined": "XP_016875977.1:p.Asp542Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2448,
          "referenceAllele": "T",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "XM_017020489.1:c.1608T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875978.1:p.Asp536Glu",
        "hgvsWellDefined": "XP_016875978.1:p.Asp536Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645480801",
      "coordinates": [
        {
          "allele": "A",
          "end": 2571,
          "referenceAllele": "T",
          "start": 2570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "NM_004119.3:c.2505T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004110.2:p.Asp835Glu",
        "hgvsWellDefined": "NP_004110.2:p.Asp835Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696052",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000241453.12:c.2505T>A"
          },
          "RefSeq": {
            "hgvs": "NM_004119.3:c.2505T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000241453.7:p.Asp835Glu"
          },
          "RefSeq": {
            "hgvs": "NP_004110.2:p.Asp835Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2703,
          "referenceAllele": "T",
          "start": 2702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003765",
      "geneNCBI_id": 2322,
      "geneSymbol": "FLT3",
      "hgvs": [
        "NR_130706.2:n.2703T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703334"
    }
  ],
  "type": "nucleotide"
}