{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2715872",
  "communityStandardTitle": [
    "NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4983595"
      },
      {
        "active": false,
        "id": "COSM4983596"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=452209[alleleid]",
        "alleleId": 452209,
        "preferredName": "NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/455014",
        "RCV": [
          "RCV000552448",
          "RCV000754965",
          "RCV001289545",
          "RCV002223222"
        ],
        "variationId": 455014
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-180359860-G-A",
        "id": "3-180359860-G-A",
        "variant": "3:180359860 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.180359860G>A?assembly=hg19",
        "id": "chr3:g.180359860G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.180642072G>A?assembly=hg38",
        "id": "chr3:g.180642072G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201780665",
        "rs": 201780665
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-180359860-G-A?dataset=gnomad_r2_1",
        "id": "3-180359860-G-A",
        "variant": "3:180359860 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-180642072-G-A?dataset=gnomad_r3",
        "id": "3-180642072-G-A",
        "variant": "3:180642072 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-180642072-G-A?dataset=gnomad_r4",
        "id": "3-180642072-G-A",
        "variant": "3:180642072 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 180642072,
          "referenceAllele": "G",
          "start": 180642071
        }
      ],
      "hgvs": [
        "NC_000003.12:g.180642072G>A",
        "CM000665.2:g.180642072G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 180359860,
          "referenceAllele": "G",
          "start": 180359859
        }
      ],
      "hgvs": [
        "NC_000003.11:g.180359860G>A",
        "CM000665.1:g.180359860G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 181842554,
          "referenceAllele": "G",
          "start": 181842553
        }
      ],
      "hgvs": [
        "NC_000003.10:g.181842554G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42424,
          "referenceAllele": "C",
          "start": 42423
        }
      ],
      "hgvs": [
        "NG_029581.1:g.42424C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004510"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1904,
          "referenceAllele": "C",
          "start": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000476379.6:c.1795C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417960.2:p.Arg599Ter",
        "hgvsWellDefined": "ENSP00000417960.2:p.Arg599_Lys941delinsThrGluGluIleLysValHisLysThrMetLeuAlaSerGlnIleArgTyrValAspGlnGluArgGluAsnIleSerThrGluPheArgGluArgLeuSerLysIleGluLysLeuLysAsnArgTyrGluIleLeuThrValValMetLeuProProGluGlyGluGluGluLysThrGlnAlaTyrTyrValIleLysAlaAlaGlnGluLysGluGluLeuGlnArgGluGlyAspCysLeuAspAlaLysIleAsnLysAlaGluLysGluIleTyrAlaLeuGluAsnThrLeuGlnValLeuAsnSerCysAsnAsnAsnTyrLysGlnSerPheLysLysValThrProSerSerAspGluTyrGluLeuLysIleGlnLeuGluGluGlnLysArgAlaValAspGluLysTyrArgTyrLysGlnArgGlnIleArgGluLeuGlnGluAspIleGlnSerMetGluAsnThrLeuAspValIleGluHisLeuAlaAsnAsnValLysGluLysLeuSerGluLysGlnAlaTyrSerPheGlnLeuSerLysGluThrGluGluGlnLysProLysLeuGluArgValThrLysGlnCysAlaLysLeuThrLysGluIleArgLeuLeuLysAspThrLysAspGluThrMetGluGluGlnAspIleLysLeuArgGluMetLysGlnPheHisLysValIleAspGluMetLeuValAspIleIleGluGluAsnThrGluIleArgIleIleLeuGlnThrTyrPheGlnGlnSerGlyLeuGluLeuProThrAlaSerThrLysGlySerArgGlnSerSerArgSerProSerHisThrSerLeuSerAlaArgSerSerArgSerThrSerThrSerThrSerGlnSerSerIleLysValLeuGluLeuLysPheProAlaSerSerSerLeuValGlySerProSerArgProSerSerAlaSerSerSerSerSerAsnValLysSerLysLysSerSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757188",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000476379.6:c.1795C>T"
          },
          "RefSeq": {
            "hgvs": "NM_181426.2:c.1795C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417960.2:p.Arg599Ter"
          },
          "RefSeq": {
            "hgvs": "NP_852091.1:p.Arg599Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1682,
          "referenceAllele": "C",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000650641.1:n.1682C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1697,
          "referenceAllele": "C",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000651046.1:c.1603C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499175.1:p.Arg535Ter",
        "hgvsWellDefined": "ENSP00000499175.1:p.Arg535_Lys877delinsThrGluGluIleLysValHisLysThrMetLeuAlaSerGlnIleArgTyrValAspGlnGluArgGluAsnIleSerThrGluPheArgGluArgLeuSerLysIleGluLysLeuLysAsnArgTyrGluIleLeuThrValValMetLeuProProGluGlyGluGluGluLysThrGlnAlaTyrTyrValIleLysAlaAlaGlnGluLysGluGluLeuGlnArgGluGlyAspCysLeuAspAlaLysIleAsnLysAlaGluLysGluIleTyrAlaLeuGluAsnThrLeuGlnValLeuAsnSerCysAsnAsnAsnTyrLysGlnSerPheLysLysValThrProSerSerAspGluTyrGluLeuLysIleGlnLeuGluGluGlnLysArgAlaValAspGluLysTyrArgTyrLysGlnArgGlnIleArgGluLeuGlnGluAspIleGlnSerMetGluAsnThrLeuAspValIleGluHisLeuAlaAsnAsnValLysGluLysLeuSerGluLysGlnAlaTyrSerPheGlnLeuSerLysGluThrGluGluGlnLysProLysLeuGluArgValThrLysGlnCysAlaLysLeuThrLysGluIleArgLeuLeuLysAspThrLysAspGluThrMetGluGluGlnAspIleLysLeuArgGluMetLysGlnPheHisLysValIleAspGluMetLeuValAspIleIleGluGluAsnThrGluIleArgIleIleLeuGlnThrTyrPheGlnGlnSerGlyLeuGluLeuProThrAlaSerThrLysGlySerArgGlnSerSerArgSerProSerHisThrSerLeuSerAlaArgSerSerArgSerThrSerThrSerThrSerGlnSerSerIleLysValLeuGluLeuLysPheProAlaSerSerSerLeuValGlySerProSerArgProSerSerAlaSerSerSerSerSerAsnValLysSerLysLysSerSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1120,
          "referenceAllele": "C",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000651922.1:n.1120C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1932,
          "referenceAllele": "C",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000652408.1:n.1932C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1915,
          "referenceAllele": "C",
          "start": 1914
        }
      ],
      "hgvs": [
        "ENST00000442201.6:c.1795C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405708.2:p.Arg599Ter",
        "hgvsWellDefined": "ENSP00000405708.2:p.Arg599_Lys941delinsThrGluGluIleLysValHisLysThrMetLeuAlaSerGlnIleArgTyrValAspGlnGluArgGluAsnIleSerThrGluPheArgGluArgLeuSerLysIleGluLysLeuLysAsnArgTyrGluIleLeuThrValValMetLeuProProGluGlyGluGluGluLysThrGlnAlaTyrTyrValIleLysAlaAlaGlnGluLysGluGluLeuGlnArgGluGlyAspCysLeuAspAlaLysIleAsnLysAlaGluLysGluIleTyrAlaLeuGluAsnThrLeuGlnValLeuAsnSerCysAsnAsnAsnTyrLysGlnSerPheLysLysValThrProSerSerAspGluTyrGluLeuLysIleGlnLeuGluGluGlnLysArgAlaValAspGluLysTyrArgTyrLysGlnArgGlnIleArgGluLeuGlnGluAspIleGlnSerMetGluAsnThrLeuAspValIleGluHisLeuAlaAsnAsnValLysGluLysLeuSerGluLysGlnAlaTyrSerPheGlnLeuSerLysGluThrGluGluGlnLysProLysLeuGluArgValThrLysGlnCysAlaLysLeuThrLysGluIleArgLeuLeuLysAspThrLysAspGluThrMetGluGluGlnAspIleLysLeuArgGluMetLysGlnPheHisLysValIleAspGluMetLeuValAspIleIleGluGluAsnThrGluIleArgIleIleLeuGlnThrTyrPheGlnGlnSerGlyLeuGluLeuProThrAlaSerThrLysGlySerArgGlnSerSerArgSerProSerHisThrSerLeuSerAlaArgSerSerArgSerThrSerThrSerThrSerGlnSerSerIleLysValLeuGluLeuLysPheProAlaSerSerSerLeuValGlySerProSerArgProSerSerAlaSerSerSerSerSerAsnValLysSerLysLysSerSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2667,
          "referenceAllele": "C",
          "start": 2666
        }
      ],
      "hgvs": [
        "ENST00000476379.5:c.1795C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417960.1:p.Arg599Ter",
        "hgvsWellDefined": "ENSP00000417960.1:p.Arg599_Ser671delinsThrGluGluIleLysValHisLysThrMetLeuAlaSerGlnIleArgTyrValAspGlnGluArgGluAsnIleSerThrGluPheArgGluArgLeuSerLysIleGluLysLeuLysAsnArgTyrGluIleLeuThrValValMetLeuProProGluGlyGluGluGluLysThrGlnAlaTyrTyrValIleLysValMetSerMetSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658681892",
      "coordinates": [
        {
          "allele": "T",
          "end": 1910,
          "referenceAllele": "C",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "NM_181426.1:c.1795C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852091.1:p.Arg599Ter",
        "hgvsWellDefined": "NP_852091.1:p.Arg599_Lys941delinsThrGluGluIleLysValHisLysThrMetLeuAlaSerGlnIleArgTyrValAspGlnGluArgGluAsnIleSerThrGluPheArgGluArgLeuSerLysIleGluLysLeuLysAsnArgTyrGluIleLeuThrValValMetLeuProProGluGlyGluGluGluLysThrGlnAlaTyrTyrValIleLysAlaAlaGlnGluLysGluGluLeuGlnArgGluGlyAspCysLeuAspAlaLysIleAsnLysAlaGluLysGluIleTyrAlaLeuGluAsnThrLeuGlnValLeuAsnSerCysAsnAsnAsnTyrLysGlnSerPheLysLysValThrProSerSerAspGluTyrGluLeuLysIleGlnLeuGluGluGlnLysArgAlaValAspGluLysTyrArgTyrLysGlnArgGlnIleArgGluLeuGlnGluAspIleGlnSerMetGluAsnThrLeuAspValIleGluHisLeuAlaAsnAsnValLysGluLysLeuSerGluLysGlnAlaTyrSerPheGlnLeuSerLysGluThrGluGluGlnLysProLysLeuGluArgValThrLysGlnCysAlaLysLeuThrLysGluIleArgLeuLeuLysAspThrLysAspGluThrMetGluGluGlnAspIleLysLeuArgGluMetLysGlnPheHisLysValIleAspGluMetLeuValAspIleIleGluGluAsnThrGluIleArgIleIleLeuGlnThrTyrPheGlnGlnSerGlyLeuGluLeuProThrAlaSerThrLysGlySerArgGlnSerSerArgSerProSerHisThrSerLeuSerAlaArgSerSerArgSerThrSerThrSerThrSerGlnSerSerIleLysValLeuGluLeuLysPheProAlaSerSerSerLeuValGlySerProSerArgProSerSerAlaSerSerSerSerSerAsnValLysSerLysLysSerSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658681892",
      "coordinates": [
        {
          "allele": "T",
          "end": 1904,
          "referenceAllele": "C",
          "start": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "NM_181426.2:c.1795C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852091.1:p.Arg599Ter",
        "hgvsWellDefined": "NP_852091.1:p.Arg599_Lys941delinsThrGluGluIleLysValHisLysThrMetLeuAlaSerGlnIleArgTyrValAspGlnGluArgGluAsnIleSerThrGluPheArgGluArgLeuSerLysIleGluLysLeuLysAsnArgTyrGluIleLeuThrValValMetLeuProProGluGlyGluGluGluLysThrGlnAlaTyrTyrValIleLysAlaAlaGlnGluLysGluGluLeuGlnArgGluGlyAspCysLeuAspAlaLysIleAsnLysAlaGluLysGluIleTyrAlaLeuGluAsnThrLeuGlnValLeuAsnSerCysAsnAsnAsnTyrLysGlnSerPheLysLysValThrProSerSerAspGluTyrGluLeuLysIleGlnLeuGluGluGlnLysArgAlaValAspGluLysTyrArgTyrLysGlnArgGlnIleArgGluLeuGlnGluAspIleGlnSerMetGluAsnThrLeuAspValIleGluHisLeuAlaAsnAsnValLysGluLysLeuSerGluLysGlnAlaTyrSerPheGlnLeuSerLysGluThrGluGluGlnLysProLysLeuGluArgValThrLysGlnCysAlaLysLeuThrLysGluIleArgLeuLeuLysAspThrLysAspGluThrMetGluGluGlnAspIleLysLeuArgGluMetLysGlnPheHisLysValIleAspGluMetLeuValAspIleIleGluGluAsnThrGluIleArgIleIleLeuGlnThrTyrPheGlnGlnSerGlyLeuGluLeuProThrAlaSerThrLysGlySerArgGlnSerSerArgSerProSerHisThrSerLeuSerAlaArgSerSerArgSerThrSerThrSerThrSerGlnSerSerIleLysValLeuGluLeuLysPheProAlaSerSerSerLeuValGlySerProSerArgProSerSerAlaSerSerSerSerSerAsnValLysSerLysLysSerSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000476379.6:c.1795C>T"
          },
          "RefSeq": {
            "hgvs": "NM_181426.2:c.1795C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417960.2:p.Arg599Ter"
          },
          "RefSeq": {
            "hgvs": "NP_852091.1:p.Arg599Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}