{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9528566",
  "communityStandardTitle": [
    "NM_032040.5(CCDC8):c.963del (p.Ala323ProfsTer?)"
  ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=980966[alleleid]",
        "alleleId": 980966,
        "preferredName": "NM_032040.5(CCDC8):c.963del (p.Ala323fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/993034",
        "RCV": [
          "RCV001283853"
        ],
        "variationId": 993034
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-46915104-CT-C",
        "id": "19-46915104-CT-C",
        "variant": "19:46915104 CT / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.46915105del?assembly=hg19",
        "id": "chr19:g.46915105del"
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.46411848del?assembly=hg38",
        "id": "chr19:g.46411848del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/746873023",
        "rs": 746873023
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-46915104-CT-C?dataset=gnomad_r2_1",
        "id": "19-46915104-CT-C",
        "variant": "19:46915104 CT / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-46411847-CT-C?dataset=gnomad_r3",
        "id": "19-46411847-CT-C",
        "variant": "19:46411847 CT / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-46411847-CT-C?dataset=gnomad_r4",
        "id": "19-46411847-CT-C",
        "variant": "19:46411847 CT / C"
      }
    ]
  },
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    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 46411848,
          "referenceAllele": "T",
          "start": 46411847
        }
      ],
      "hgvs": [
        "NC_000019.10:g.46411848del",
        "CM000681.2:g.46411848del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 46915105,
          "referenceAllele": "T",
          "start": 46915104
        }
      ],
      "hgvs": [
        "NC_000019.9:g.46915105del",
        "CM000681.1:g.46915105del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 51606945,
          "referenceAllele": "T",
          "start": 51606944
        }
      ],
      "hgvs": [
        "NC_000019.8:g.51606945del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6815,
          "referenceAllele": "A",
          "start": 6814
        }
      ],
      "hgvs": [
        "NG_031956.1:g.6815del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005052"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1717,
          "referenceAllele": "A",
          "start": 1716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025367",
      "geneNCBI_id": 83987,
      "geneSymbol": "CCDC8",
      "hgvs": [
        "ENST00000697726.1:c.1173del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513420.1:p.Ala393ProfsTer?",
        "hgvsWellDefined": "ENSP00000513420.1:p.[Ala393_Gln397delinsProGlnLeuThrArg;Ala399_Gln405delinsGlnArgLeuGlnIleIle;Glu407_Gln413delinsGlyLysArgLeuGlnIleIle;Ala415_Ala417delinsGlyGlnGly;Ala419_Glu421delinsGlnLeuArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908935"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1717,
          "referenceAllele": "A",
          "start": 1716
        }
      ],
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      "geneNCBI_id": 83987,
      "geneSymbol": "CCDC8",
      "hgvs": [
        "ENST00000307522.5:c.963del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303158.3:p.Ala323ProfsTer?",
        "hgvsWellDefined": "ENSP00000303158.3:p.[Ala323_Gln327delinsProGlnLeuThrArg;Ala329_Gln335delinsGlnArgLeuGlnIleIle;Glu337_Gln343delinsGlyLysArgLeuGlnIleIle;Ala345_Ala347delinsGlyGlnGly;Ala349_Glu351delinsGlnLeuArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745376",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307522.5:c.963del"
          },
          "RefSeq": {
            "hgvs": "NM_032040.5:c.963del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303158.3:p.Ala323ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_114429.2:p.Ala323ProfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1737,
          "referenceAllele": "A",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025367",
      "geneNCBI_id": 83987,
      "geneSymbol": "CCDC8",
      "hgvs": [
        "ENST00000307522.3:c.963del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303158.3:p.Ala323ProfsTer?",
        "hgvsWellDefined": "ENSP00000303158.3:p.[Ala323_Gln327delinsProGlnLeuThrArg;Ala329_Gln335delinsGlnArgLeuGlnIleIle;Glu337_Gln343delinsGlyLysArgLeuGlnIleIle;Ala345_Ala347delinsGlyGlnGly;Ala349_Glu351delinsGlnLeuArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255904"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1815,
          "referenceAllele": "A",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025367",
      "geneNCBI_id": 83987,
      "geneSymbol": "CCDC8",
      "hgvs": [
        "NM_032040.4:c.963del"
      ],
      "proteinEffect": {
        "hgvs": "NP_114429.2:p.Ala323ProfsTer?",
        "hgvsWellDefined": "NP_114429.2:p.[Ala323_Gln327delinsProGlnLeuThrArg;Ala329_Gln335delinsGlnArgLeuGlnIleIle;Glu337_Gln343delinsGlyLysArgLeuGlnIleIle;Ala345_Ala347delinsGlyGlnGly;Ala349_Glu351delinsGlnLeuArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038808"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1717,
          "referenceAllele": "A",
          "start": 1716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025367",
      "geneNCBI_id": 83987,
      "geneSymbol": "CCDC8",
      "hgvs": [
        "NM_032040.5:c.963del"
      ],
      "proteinEffect": {
        "hgvs": "NP_114429.2:p.Ala323ProfsTer?",
        "hgvsWellDefined": "NP_114429.2:p.[Ala323_Gln327delinsProGlnLeuThrArg;Ala329_Gln335delinsGlnArgLeuGlnIleIle;Glu337_Gln343delinsGlyLysArgLeuGlnIleIle;Ala345_Ala347delinsGlyGlnGly;Ala349_Glu351delinsGlnLeuArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307522.5:c.963del"
          },
          "RefSeq": {
            "hgvs": "NM_032040.5:c.963del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303158.3:p.Ala323ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_114429.2:p.Ala323ProfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}