{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16044266",
  "communityStandardTitle": [
    "NM_001453.3(FOXC1):c.599_617del (p.Gln200ArgfsTer?)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362203[alleleid]",
        "alleleId": 362203,
        "preferredName": "NM_001453.3(FOXC1):c.599_617del (p.Gln200fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375427",
        "RCV": [
          "RCV000416505",
          "RCV001584112"
        ],
        "variationId": 375427
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.1611279_1611297del?assembly=hg19",
        "id": "chr6:g.1611279_1611297del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.1611044_1611062del?assembly=hg38",
        "id": "chr6:g.1611044_1611062del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519478",
        "rs": 1057519478
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 1611062,
          "referenceAllele": "AGCCCCCGCCCGCGCCGCC",
          "start": 1611043
        }
      ],
      "hgvs": [
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        "CM000668.2:g.1611044_1611062del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 1611297,
          "referenceAllele": "AGCCCCCGCCCGCGCCGCC",
          "start": 1611278
        }
      ],
      "hgvs": [
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        "CM000668.1:g.1611279_1611297del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 1556296,
          "referenceAllele": "AGCCCCCGCCCGCGCCGCC",
          "start": 1556277
        }
      ],
      "hgvs": [
        "NC_000006.10:g.1556278_1556296del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5617,
          "referenceAllele": "AGCCCCCGCCCGCGCCGCC",
          "start": 5598
        }
      ],
      "hgvs": [
        "NG_009368.1:g.5599_5617del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001576"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1148,
          "referenceAllele": "AGCCCCCGCCCGCGCCGCC",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003800",
      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "ENST00000645831.2:c.599_617del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493906.1:p.Gln200ArgfsTer?",
        "hgvsWellDefined": "ENSP00000493906.1:p.[Gln200_Pro202delinsArgSerArg;Ala204_Gln208delinsThr;Asp210_Gln217delinsThrArgProValArgSerArgArg;Pro219_Val221delinsCysAlaSer;Ile223_Lys227delinsThrSerArgProArg;Glu229_Cys233delinsValArgAla;Ser235Arg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768565",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000645831.2:c.599_617del"
          },
          "RefSeq": {
            "hgvs": "NM_001453.3:c.599_617del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493906.1:p.Gln200ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001444.2:p.Gln200ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1091,
          "referenceAllele": "AGCCCCCGCCCGCGCCGCC",
          "start": 1072
        }
      ],
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      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "ENST00000380874.3:c.599_617del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370256.2:p.Gln200ArgfsTer?",
        "hgvsWellDefined": "ENSP00000370256.2:p.[Gln200_Pro202delinsArgSerArg;Ala204_Gln208delinsThr;Asp210_Gln217delinsThrArgProValArgSerArgArg;Pro219_Val221delinsCysAlaSer;Ile223_Lys227delinsThrSerArgProArg;Glu229_Cys233delinsValArgAla;Ser235Arg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273130"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 617,
          "referenceAllele": "AGCCCCCGCCCGCGCCGCC",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003800",
      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "NM_001453.2:c.599_617del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001444.2:p.Gln200ArgfsTer?",
        "hgvsWellDefined": "NP_001444.2:p.[Gln200_Pro202delinsArgSerArg;Ala204_Gln208delinsThr;Asp210_Gln217delinsThrArgProValArgSerArgArg;Pro219_Val221delinsCysAlaSer;Ile223_Lys227delinsThrSerArgProArg;Glu229_Cys233delinsValArgAla;Ser235Arg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026835"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1148,
          "referenceAllele": "AGCCCCCGCCCGCGCCGCC",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003800",
      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "NM_001453.3:c.599_617del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001444.2:p.Gln200ArgfsTer?",
        "hgvsWellDefined": "NP_001444.2:p.[Gln200_Pro202delinsArgSerArg;Ala204_Gln208delinsThr;Asp210_Gln217delinsThrArgProValArgSerArgArg;Pro219_Val221delinsCysAlaSer;Ile223_Lys227delinsThrSerArgProArg;Glu229_Cys233delinsValArgAla;Ser235Arg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645831.2:c.599_617del"
          },
          "RefSeq": {
            "hgvs": "NM_001453.3:c.599_617del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493906.1:p.Gln200ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001444.2:p.Gln200ArgfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}