{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16044259",
  "communityStandardTitle": [
    "NM_001453.3(FOXC1):c.100_109del (p.Gly34ThrfsTer8)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362196[alleleid]",
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        "preferredName": "NM_001453.3(FOXC1):c.100_109del (p.Gly34fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375420",
        "RCV": [
          "RCV000416515"
        ],
        "variationId": 375420
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.1610780_1610789del?assembly=hg19",
        "id": "chr6:g.1610780_1610789del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.1610545_1610554del?assembly=hg38",
        "id": "chr6:g.1610545_1610554del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519471",
        "rs": 1057519471
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 1610554,
          "referenceAllele": "GGGGGCGGCT",
          "start": 1610544
        }
      ],
      "hgvs": [
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        "CM000668.2:g.1610545_1610554del"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 1610789,
          "referenceAllele": "GGGGGCGGCT",
          "start": 1610779
        }
      ],
      "hgvs": [
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        "CM000668.1:g.1610780_1610789del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 1555788,
          "referenceAllele": "GGGGGCGGCT",
          "start": 1555778
        }
      ],
      "hgvs": [
        "NC_000006.10:g.1555779_1555788del"
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5109,
          "referenceAllele": "GGGGGCGGCT",
          "start": 5099
        }
      ],
      "hgvs": [
        "NG_009368.1:g.5100_5109del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001576"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 640,
          "referenceAllele": "GGGGGCGGCT",
          "start": 630
        }
      ],
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      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "ENST00000645831.2:c.100_109del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493906.1:p.Gly34ThrfsTer8",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768565",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "NM_001453.3:c.100_109del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493906.1:p.Gly34ThrfsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_001444.2:p.Gly34ThrfsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 583,
          "referenceAllele": "GGGGGCGGCT",
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      ],
      "gene": "http://reg.genome.network/gene/GN003800",
      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "ENST00000380874.3:c.100_109del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370256.2:p.Gly34ThrfsTer8",
        "hgvsWellDefined": "ENSP00000370256.2:p.[Gly34_Tyr37del;Ala39_Met40del;Ala42del;Met44_His49delinsCysArg;Ala51_Gly65del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273130"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "GGGGGCGGCT",
          "start": 99
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      ],
      "gene": "http://reg.genome.network/gene/GN003800",
      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "NM_001453.2:c.100_109del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001444.2:p.Gly34ThrfsTer8",
        "hgvsWellDefined": "NP_001444.2:p.[Gly34_Tyr37del;Ala39_Met40del;Ala42del;Met44_His49delinsCysArg;Ala51_Gly65del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026835"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 640,
          "referenceAllele": "GGGGGCGGCT",
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      ],
      "gene": "http://reg.genome.network/gene/GN003800",
      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "NM_001453.3:c.100_109del"
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      "proteinEffect": {
        "hgvs": "NP_001444.2:p.Gly34ThrfsTer8",
        "hgvsWellDefined": "NP_001444.2:p.[Gly34_Tyr37del;Ala39_Met40del;Ala42del;Met44_His49delinsCysArg;Ala51_Gly65del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          },
          "RefSeq": {
            "hgvs": "NM_001453.3:c.100_109del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493906.1:p.Gly34ThrfsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_001444.2:p.Gly34ThrfsTer8"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}