{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16044269",
  "communityStandardTitle": [
    "NM_001453.3(FOXC1):c.925_949del (p.Ser309CysfsTer?)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362206[alleleid]",
        "alleleId": 362206,
        "preferredName": "NM_001453.3(FOXC1):c.925_949del (p.Ser309fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375430",
        "RCV": [
          "RCV000416504"
        ],
        "variationId": 375430
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.1611605_1611629del?assembly=hg19",
        "id": "chr6:g.1611605_1611629del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.1611370_1611394del?assembly=hg38",
        "id": "chr6:g.1611370_1611394del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519481",
        "rs": 1057519481
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 1611394,
          "referenceAllele": "AGCGTGGACAACATCATGACGTCGC",
          "start": 1611369
        }
      ],
      "hgvs": [
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        "CM000668.2:g.1611370_1611394del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 1611629,
          "referenceAllele": "AGCGTGGACAACATCATGACGTCGC",
          "start": 1611604
        }
      ],
      "hgvs": [
        "NC_000006.11:g.1611605_1611629del",
        "CM000668.1:g.1611605_1611629del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 1556628,
          "referenceAllele": "AGCGTGGACAACATCATGACGTCGC",
          "start": 1556603
        }
      ],
      "hgvs": [
        "NC_000006.10:g.1556604_1556628del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5949,
          "referenceAllele": "AGCGTGGACAACATCATGACGTCGC",
          "start": 5924
        }
      ],
      "hgvs": [
        "NG_009368.1:g.5925_5949del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001576"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1480,
          "referenceAllele": "AGCGTGGACAACATCATGACGTCGC",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003800",
      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "ENST00000645831.2:c.925_949del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493906.1:p.Ser309CysfsTer?",
        "hgvsWellDefined": "ENSP00000493906.1:p.[Ser309_Leu317delinsCysGlyGlyArgArgArgAlaArgPro;Gly319del;Pro321_Gln322del;Ala325Pro;Glu327_Ser335delinsPheTrpProArgArgProArgProArg;Ala337_Ser340del;Ala342del;Ile344_Ala345delinsSerHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768565",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645831.2:c.925_949del"
          },
          "RefSeq": {
            "hgvs": "NM_001453.3:c.925_949del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493906.1:p.Ser309CysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001444.2:p.Ser309CysfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1423,
          "referenceAllele": "AGCGTGGACAACATCATGACGTCGC",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003800",
      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "ENST00000380874.3:c.925_949del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370256.2:p.Ser309CysfsTer?",
        "hgvsWellDefined": "ENSP00000370256.2:p.[Ser309_Leu317delinsCysGlyGlyArgArgArgAlaArgPro;Gly319del;Pro321_Gln322del;Ala325Pro;Glu327_Ser335delinsPheTrpProArgArgProArgProArg;Ala337_Ser340del;Ala342del;Ile344_Ala345delinsSerHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273130"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 949,
          "referenceAllele": "AGCGTGGACAACATCATGACGTCGC",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003800",
      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "NM_001453.2:c.925_949del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001444.2:p.Ser309CysfsTer?",
        "hgvsWellDefined": "NP_001444.2:p.[Ser309_Leu317delinsCysGlyGlyArgArgArgAlaArgPro;Gly319del;Pro321_Gln322del;Ala325Pro;Glu327_Ser335delinsPheTrpProArgArgProArgProArg;Ala337_Ser340del;Ala342del;Ile344_Ala345delinsSerHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026835"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1480,
          "referenceAllele": "AGCGTGGACAACATCATGACGTCGC",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003800",
      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "NM_001453.3:c.925_949del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001444.2:p.Ser309CysfsTer?",
        "hgvsWellDefined": "NP_001444.2:p.[Ser309_Leu317delinsCysGlyGlyArgArgArgAlaArgPro;Gly319del;Pro321_Gln322del;Ala325Pro;Glu327_Ser335delinsPheTrpProArgArgProArgProArg;Ala337_Ser340del;Ala342del;Ile344_Ala345delinsSerHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645831.2:c.925_949del"
          },
          "RefSeq": {
            "hgvs": "NM_001453.3:c.925_949del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493906.1:p.Ser309CysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001444.2:p.Ser309CysfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}