{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580097422",
  "communityStandardTitle": [
    "NM_032040.5(CCDC8):c.976del (p.Asp326ThrfsTer?)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2402726[alleleid]",
        "alleleId": 2402726,
        "preferredName": "NM_032040.5(CCDC8):c.976del (p.Asp326fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2429293",
        "RCV": [
          "RCV003123532"
        ],
        "variationId": 2429293
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2513601361",
        "rs": 2513601361
      }
    ]
  },
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    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 46411835,
          "referenceAllele": "C",
          "start": 46411834
        }
      ],
      "hgvs": [
        "NC_000019.10:g.46411835del",
        "CM000681.2:g.46411835del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 46915092,
          "referenceAllele": "C",
          "start": 46915091
        }
      ],
      "hgvs": [
        "NC_000019.9:g.46915092del",
        "CM000681.1:g.46915092del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 51606932,
          "referenceAllele": "C",
          "start": 51606931
        }
      ],
      "hgvs": [
        "NC_000019.8:g.51606932del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6828,
          "referenceAllele": "G",
          "start": 6827
        }
      ],
      "hgvs": [
        "NG_031956.1:g.6828del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005052"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1730,
          "referenceAllele": "G",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025367",
      "geneNCBI_id": 83987,
      "geneSymbol": "CCDC8",
      "hgvs": [
        "ENST00000697726.1:c.1186del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513420.1:p.Asp396ThrfsTer?",
        "hgvsWellDefined": "ENSP00000513420.1:p.[Asp396_Gln397delinsThrArg;Ala399_Gln405delinsGlnArgLeuGlnIleIle;Glu407_Gln413delinsGlyLysArgLeuGlnIleIle;Ala415_Ala417delinsGlyGlnGly;Ala419_Glu421delinsGlnLeuArgArg;Ala423_Ala425delinsGlnArgLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908935"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1730,
          "referenceAllele": "G",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025367",
      "geneNCBI_id": 83987,
      "geneSymbol": "CCDC8",
      "hgvs": [
        "ENST00000307522.5:c.976del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303158.3:p.Asp326ThrfsTer?",
        "hgvsWellDefined": "ENSP00000303158.3:p.[Asp326_Gln327delinsThrArg;Ala329_Gln335delinsGlnArgLeuGlnIleIle;Glu337_Gln343delinsGlyLysArgLeuGlnIleIle;Ala345_Ala347delinsGlyGlnGly;Ala349_Glu351delinsGlnLeuArgArg;Ala353_Ala355delinsGlnArgLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745376",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307522.5:c.976del"
          },
          "RefSeq": {
            "hgvs": "NM_032040.5:c.976del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303158.3:p.Asp326ThrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_114429.2:p.Asp326ThrfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1750,
          "referenceAllele": "G",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025367",
      "geneNCBI_id": 83987,
      "geneSymbol": "CCDC8",
      "hgvs": [
        "ENST00000307522.3:c.976del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303158.3:p.Asp326ThrfsTer?",
        "hgvsWellDefined": "ENSP00000303158.3:p.[Asp326_Gln327delinsThrArg;Ala329_Gln335delinsGlnArgLeuGlnIleIle;Glu337_Gln343delinsGlyLysArgLeuGlnIleIle;Ala345_Ala347delinsGlyGlnGly;Ala349_Glu351delinsGlnLeuArgArg;Ala353_Ala355delinsGlnArgLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255904"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1828,
          "referenceAllele": "G",
          "start": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025367",
      "geneNCBI_id": 83987,
      "geneSymbol": "CCDC8",
      "hgvs": [
        "NM_032040.4:c.976del"
      ],
      "proteinEffect": {
        "hgvs": "NP_114429.2:p.Asp326ThrfsTer?",
        "hgvsWellDefined": "NP_114429.2:p.[Asp326_Gln327delinsThrArg;Ala329_Gln335delinsGlnArgLeuGlnIleIle;Glu337_Gln343delinsGlyLysArgLeuGlnIleIle;Ala345_Ala347delinsGlyGlnGly;Ala349_Glu351delinsGlnLeuArgArg;Ala353_Ala355delinsGlnArgLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038808"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1730,
          "referenceAllele": "G",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025367",
      "geneNCBI_id": 83987,
      "geneSymbol": "CCDC8",
      "hgvs": [
        "NM_032040.5:c.976del"
      ],
      "proteinEffect": {
        "hgvs": "NP_114429.2:p.Asp326ThrfsTer?",
        "hgvsWellDefined": "NP_114429.2:p.[Asp326_Gln327delinsThrArg;Ala329_Gln335delinsGlnArgLeuGlnIleIle;Glu337_Gln343delinsGlyLysArgLeuGlnIleIle;Ala345_Ala347delinsGlyGlnGly;Ala349_Glu351delinsGlnLeuArgArg;Ala353_Ala355delinsGlnArgLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307522.5:c.976del"
          },
          "RefSeq": {
            "hgvs": "NM_032040.5:c.976del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303158.3:p.Asp326ThrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_114429.2:p.Asp326ThrfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}