{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16615444",
  "communityStandardTitle": [
    "NM_213607.3(CCDC103):c.115C>T (p.Gln39Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=402157[alleleid]",
        "alleleId": 402157,
        "preferredName": "NM_213607.3(CCDC103):c.115C>T (p.Gln39Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/411696",
        "RCV": [
          "RCV000467115"
        ],
        "variationId": 411696
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42978481C>T?assembly=hg19",
        "id": "chr17:g.42978481C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44901113C>T?assembly=hg38",
        "id": "chr17:g.44901113C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060503433",
        "rs": 1060503433
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44901113-C-T?dataset=gnomad_r4",
        "id": "17-44901113-C-T",
        "variant": "17:44901113 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 44901113,
          "referenceAllele": "C",
          "start": 44901112
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44901113C>T",
        "CM000679.2:g.44901113C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42978481,
          "referenceAllele": "C",
          "start": 42978480
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42978481C>T",
        "CM000679.1:g.42978481C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 40334007,
          "referenceAllele": "C",
          "start": 40334006
        }
      ],
      "hgvs": [
        "NC_000017.9:g.40334007C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3513,
          "referenceAllele": "G",
          "start": 3512
        }
      ],
      "hgvs": [
        "NG_032674.1:g.3513G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6402,
          "referenceAllele": "C",
          "start": 6401
        }
      ],
      "hgvs": [
        "NG_032792.1:g.6402C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005222"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 255,
          "referenceAllele": "C",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032700",
      "geneNCBI_id": 388389,
      "geneSymbol": "CCDC103",
      "hgvs": [
        "ENST00000417826.3:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391692.2:p.Gln39Ter",
        "hgvsWellDefined": "ENSP00000391692.2:p.Gln39_Asp242delinsArgValAlaSerTyrGluGluPheArgGlyIleValLeuAlaSerHisLeuLysProLeuGluArgLysAspLysMetGlyGlyLysArgThrValProTrpAsnCysHisThrIleGlnGlyArgThrPheGlnAspValAlaThrGluIleSerProGluLysAlaProLeuGlnProGluThrSerAlaAspPheTyrArgAspTrpArgArgHisLeuProSerGlyProGluArgTyrGlnAlaLeuLeuGlnLeuGlyGlyProArgLeuGlyCysLeuPheGlnThrAspValGlyPheGlyLeuLeuGlyGluLeuLeuValAlaLeuAlaAspHisValGlyProAlaAspArgAlaAlaValLeuGlyIleLeuCysSerLeuAlaSerThrGlyArgPheThrLeuAsnLeuSerLeuLeuSerArgAlaGluArgGluSerCysLysGlyLeuPheGlnLysLeuGlnAlaMetGlyAsnProArgSerValLysGluGlyLeuSerTrpGluGluGlnGlyLeuGluGluGlnSerGlyGlyLeuGlnGluGluGluArgLeuLeuGlnGluLeuLeuGluLeuTyrGlnValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754713",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000417826.3:c.115C>T"
          },
          "RefSeq": {
            "hgvs": "NM_213607.3:c.115C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000391692.2:p.Gln39Ter"
          },
          "RefSeq": {
            "hgvs": "NP_998772.1:p.Gln39Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210,
          "referenceAllele": "C",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN035153",
      "geneNCBI_id": 100528020,
      "geneSymbol": "FAM187A",
      "hgvs": [
        "ENST00000331733.4:c.-1627C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329499.4:n.-1627C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "referenceAllele": "C",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032700",
      "geneNCBI_id": 388389,
      "geneSymbol": "CCDC103",
      "hgvs": [
        "ENST00000357776.6:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350420.2:p.Gln39Ter",
        "hgvsWellDefined": "ENSP00000350420.2:p.Gln39Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 242,
          "referenceAllele": "C",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032700",
      "geneNCBI_id": 388389,
      "geneSymbol": "CCDC103",
      "hgvs": [
        "ENST00000410006.6:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387252.1:p.Gln39Ter",
        "hgvsWellDefined": "ENSP00000387252.1:p.Gln39_Asp242delinsArgValAlaSerTyrGluGluPheArgGlyIleValLeuAlaSerHisLeuLysProLeuGluArgLysAspLysMetGlyGlyLysArgThrValProTrpAsnCysHisThrIleGlnGlyArgThrPheGlnAspValAlaThrGluIleSerProGluLysAlaProLeuGlnProGluThrSerAlaAspPheTyrArgAspTrpArgArgHisLeuProSerGlyProGluArgTyrGlnAlaLeuLeuGlnLeuGlyGlyProArgLeuGlyCysLeuPheGlnThrAspValGlyPheGlyLeuLeuGlyGluLeuLeuValAlaLeuAlaAspHisValGlyProAlaAspArgAlaAlaValLeuGlyIleLeuCysSerLeuAlaSerThrGlyArgPheThrLeuAsnLeuSerLeuLeuSerArgAlaGluArgGluSerCysLysGlyLeuPheGlnLysLeuGlnAlaMetGlyAsnProArgSerValLysGluGlyLeuSerTrpGluGluGlnGlyLeuGluGluGlnSerGlyGlyLeuGlnGluGluGluArgLeuLeuGlnGluLeuLeuGluLeuTyrGlnValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 245,
          "referenceAllele": "C",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032700",
      "geneNCBI_id": 388389,
      "geneSymbol": "CCDC103",
      "hgvs": [
        "ENST00000410027.5:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386640.1:p.Gln39Ter",
        "hgvsWellDefined": "ENSP00000386640.1:p.Gln39_Ser98delinsArgValAlaSerTyrGluGluPheArgGlyIleValLeuAlaSerHisLeuLysProLeuGluArgLysAspLysMetGlyGlyLysArgThrValProTrpAsnCysHisThrIleGlnGlyArgThrPheGlnAspValAlaThrGluIleSerProAsnSerTrpLysSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "C",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN035153",
      "geneNCBI_id": 100528020,
      "geneSymbol": "FAM187A",
      "hgvs": [
        "ENST00000412523.3:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391869.3:p.Gln39Ter",
        "hgvsWellDefined": "ENSP00000391869.3:p.Gln39_Asp242delinsArgValAlaSerTyrGluGluPheArgGlyIleValLeuAlaSerHisLeuLysProLeuGluArgLysAspLysMetGlyGlyLysArgThrValProTrpAsnCysHisThrIleGlnGlyArgThrPheGlnAspValAlaThrGluIleSerProGluLysAlaProLeuGlnProGluThrSerAlaAspPheTyrArgAspTrpArgArgHisLeuProSerGlyProGluArgTyrGlnAlaLeuLeuGlnLeuGlyGlyProArgLeuGlyCysLeuPheGlnThrAspValGlyPheGlyLeuLeuGlyGluLeuLeuValAlaLeuAlaAspHisValGlyProAlaAspArgAlaAlaValLeuGlyIleLeuCysSerLeuAlaSerThrGlyArgPheThrLeuAsnLeuSerLeuLeuSerArgAlaGluArgGluSerCysLysGlyLeuPheGlnLysLeuGlnAlaMetGlyAsnProArgSerValLysGluGlyLeuSerTrpGluGluGlnGlyLeuGluGluGlnSerGlyGlyLeuGlnGluGluGluArgLeuLeuGlnGluLeuLeuGluLeuTyrGlnValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210,
          "referenceAllele": "C",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032700",
      "geneNCBI_id": 388389,
      "geneSymbol": "CCDC103",
      "hgvs": [
        "ENST00000417826.2:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391692.2:p.Gln39Ter",
        "hgvsWellDefined": "ENSP00000391692.2:p.Gln39_Asp242delinsArgValAlaSerTyrGluGluPheArgGlyIleValLeuAlaSerHisLeuLysProLeuGluArgLysAspLysMetGlyGlyLysArgThrValProTrpAsnCysHisThrIleGlnGlyArgThrPheGlnAspValAlaThrGluIleSerProGluLysAlaProLeuGlnProGluThrSerAlaAspPheTyrArgAspTrpArgArgHisLeuProSerGlyProGluArgTyrGlnAlaLeuLeuGlnLeuGlyGlyProArgLeuGlyCysLeuPheGlnThrAspValGlyPheGlyLeuLeuGlyGluLeuLeuValAlaLeuAlaAspHisValGlyProAlaAspArgAlaAlaValLeuGlyIleLeuCysSerLeuAlaSerThrGlyArgPheThrLeuAsnLeuSerLeuLeuSerArgAlaGluArgGluSerCysLysGlyLeuPheGlnLysLeuGlnAlaMetGlyAsnProArgSerValLysGluGlyLeuSerTrpGluGluGlnGlyLeuGluGluGlnSerGlyGlyLeuGlnGluGluGluArgLeuLeuGlnGluLeuLeuGluLeuTyrGlnValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032700",
      "geneNCBI_id": 388389,
      "geneSymbol": "CCDC103",
      "hgvs": [
        "ENST00000577339.5:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462450.1:p.Gln39Ter",
        "hgvsWellDefined": "ENSP00000462450.1:p.Gln39Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826471978",
      "coordinates": [
        {
          "allele": "T",
          "end": 242,
          "referenceAllele": "C",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032700",
      "geneNCBI_id": 388389,
      "geneSymbol": "CCDC103",
      "hgvs": [
        "NM_001258395.1:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245324.1:p.Gln39Ter",
        "hgvsWellDefined": "NP_001245324.1:p.Gln39_Asp242delinsArgValAlaSerTyrGluGluPheArgGlyIleValLeuAlaSerHisLeuLysProLeuGluArgLysAspLysMetGlyGlyLysArgThrValProTrpAsnCysHisThrIleGlnGlyArgThrPheGlnAspValAlaThrGluIleSerProGluLysAlaProLeuGlnProGluThrSerAlaAspPheTyrArgAspTrpArgArgHisLeuProSerGlyProGluArgTyrGlnAlaLeuLeuGlnLeuGlyGlyProArgLeuGlyCysLeuPheGlnThrAspValGlyPheGlyLeuLeuGlyGluLeuLeuValAlaLeuAlaAspHisValGlyProAlaAspArgAlaAlaValLeuGlyIleLeuCysSerLeuAlaSerThrGlyArgPheThrLeuAsnLeuSerLeuLeuSerArgAlaGluArgGluSerCysLysGlyLeuPheGlnLysLeuGlnAlaMetGlyAsnProArgSerValLysGluGlyLeuSerTrpGluGluGlnGlyLeuGluGluGlnSerGlyGlyLeuGlnGluGluGluArgLeuLeuGlnGluLeuLeuGluLeuTyrGlnValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019848"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826472097",
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032700",
      "geneNCBI_id": 388389,
      "geneSymbol": "CCDC103",
      "hgvs": [
        "NM_001258396.1:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245325.1:p.Gln39Ter",
        "hgvsWellDefined": "NP_001245325.1:p.Gln39_Asp242delinsArgValAlaSerTyrGluGluPheArgGlyIleValLeuAlaSerHisLeuLysProLeuGluArgLysAspLysMetGlyGlyLysArgThrValProTrpAsnCysHisThrIleGlnGlyArgThrPheGlnAspValAlaThrGluIleSerProGluLysAlaProLeuGlnProGluThrSerAlaAspPheTyrArgAspTrpArgArgHisLeuProSerGlyProGluArgTyrGlnAlaLeuLeuGlnLeuGlyGlyProArgLeuGlyCysLeuPheGlnThrAspValGlyPheGlyLeuLeuGlyGluLeuLeuValAlaLeuAlaAspHisValGlyProAlaAspArgAlaAlaValLeuGlyIleLeuCysSerLeuAlaSerThrGlyArgPheThrLeuAsnLeuSerLeuLeuSerArgAlaGluArgGluSerCysLysGlyLeuPheGlnLysLeuGlnAlaMetGlyAsnProArgSerValLysGluGlyLeuSerTrpGluGluGlnGlyLeuGluGluGlnSerGlyGlyLeuGlnGluGluGluArgLeuLeuGlnGluLeuLeuGluLeuTyrGlnValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826472217",
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "C",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032700",
      "geneNCBI_id": 388389,
      "geneSymbol": "CCDC103",
      "hgvs": [
        "NM_001258397.1:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245326.1:p.Gln39Ter",
        "hgvsWellDefined": "NP_001245326.1:p.Gln39_Ser98delinsArgValAlaSerTyrGluGluPheArgGlyIleValLeuAlaSerHisLeuLysProLeuGluArgLysAspLysMetGlyGlyLysArgThrValProTrpAsnCysHisThrIleGlnGlyArgThrPheGlnAspValAlaThrGluIleSerProAsnSerTrpLysSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826472251",
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032700",
      "geneNCBI_id": 388389,
      "geneSymbol": "CCDC103",
      "hgvs": [
        "NM_001258398.1:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245327.1:p.Gln39Ter",
        "hgvsWellDefined": "NP_001245327.1:p.Gln39_Cys103delinsArgValAlaSerTyrGluGluPheArgGlyIleValLeuAlaSerHisLeuLysProLeuGluArgLysAspLysMetGlyGlyLysArgThrValProTrpAsnCysHisThrIleGlnGlyArgThrPheGlnAspValAlaThrGluIleSerProValGluSerProProProAlaArgAspValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019851"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826472301",
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "C",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032700",
      "geneNCBI_id": 388389,
      "geneSymbol": "CCDC103",
      "hgvs": [
        "NM_001258399.1:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245328.1:p.Gln39Ter",
        "hgvsWellDefined": "NP_001245328.1:p.Gln39_Cys104delinsArgValAlaSerTyrGluGluPheArgGlyIleValLeuAlaSerHisLeuLysProLeuGluArgLysAspLysMetGlyGlyLysArgThrValProTrpAsnCysHisThrIleGlnGlyArgThrPheGlnAspValAlaThrGluIleSerProValGlyGluSerProProProAlaArgAspValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645463273",
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "C",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032700",
      "geneNCBI_id": 388389,
      "geneSymbol": "CCDC103",
      "hgvs": [
        "NM_213607.2:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_998772.1:p.Gln39Ter",
        "hgvsWellDefined": "NP_998772.1:p.Gln39_Asp242delinsArgValAlaSerTyrGluGluPheArgGlyIleValLeuAlaSerHisLeuLysProLeuGluArgLysAspLysMetGlyGlyLysArgThrValProTrpAsnCysHisThrIleGlnGlyArgThrPheGlnAspValAlaThrGluIleSerProGluLysAlaProLeuGlnProGluThrSerAlaAspPheTyrArgAspTrpArgArgHisLeuProSerGlyProGluArgTyrGlnAlaLeuLeuGlnLeuGlyGlyProArgLeuGlyCysLeuPheGlnThrAspValGlyPheGlyLeuLeuGlyGluLeuLeuValAlaLeuAlaAspHisValGlyProAlaAspArgAlaAlaValLeuGlyIleLeuCysSerLeuAlaSerThrGlyArgPheThrLeuAsnLeuSerLeuLeuSerArgAlaGluArgGluSerCysLysGlyLeuPheGlnLysLeuGlnAlaMetGlyAsnProArgSerValLysGluGlyLeuSerTrpGluGluGlnGlyLeuGluGluGlnSerGlyGlyLeuGlnGluGluGluArgLeuLeuGlnGluLeuLeuGluLeuTyrGlnValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045601"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826471978",
      "coordinates": [
        {
          "allele": "T",
          "end": 225,
          "referenceAllele": "C",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032700",
      "geneNCBI_id": 388389,
      "geneSymbol": "CCDC103",
      "hgvs": [
        "NM_001258395.2:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245324.1:p.Gln39Ter",
        "hgvsWellDefined": "NP_001245324.1:p.Gln39_Asp242delinsArgValAlaSerTyrGluGluPheArgGlyIleValLeuAlaSerHisLeuLysProLeuGluArgLysAspLysMetGlyGlyLysArgThrValProTrpAsnCysHisThrIleGlnGlyArgThrPheGlnAspValAlaThrGluIleSerProGluLysAlaProLeuGlnProGluThrSerAlaAspPheTyrArgAspTrpArgArgHisLeuProSerGlyProGluArgTyrGlnAlaLeuLeuGlnLeuGlyGlyProArgLeuGlyCysLeuPheGlnThrAspValGlyPheGlyLeuLeuGlyGluLeuLeuValAlaLeuAlaAspHisValGlyProAlaAspArgAlaAlaValLeuGlyIleLeuCysSerLeuAlaSerThrGlyArgPheThrLeuAsnLeuSerLeuLeuSerArgAlaGluArgGluSerCysLysGlyLeuPheGlnLysLeuGlnAlaMetGlyAsnProArgSerValLysGluGlyLeuSerTrpGluGluGlnGlyLeuGluGluGlnSerGlyGlyLeuGlnGluGluGluArgLeuLeuGlnGluLeuLeuGluLeuTyrGlnValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680831"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826472097",
      "coordinates": [
        {
          "allele": "T",
          "end": 239,
          "referenceAllele": "C",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032700",
      "geneNCBI_id": 388389,
      "geneSymbol": "CCDC103",
      "hgvs": [
        "NM_001258396.2:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245325.1:p.Gln39Ter",
        "hgvsWellDefined": "NP_001245325.1:p.Gln39_Asp242delinsArgValAlaSerTyrGluGluPheArgGlyIleValLeuAlaSerHisLeuLysProLeuGluArgLysAspLysMetGlyGlyLysArgThrValProTrpAsnCysHisThrIleGlnGlyArgThrPheGlnAspValAlaThrGluIleSerProGluLysAlaProLeuGlnProGluThrSerAlaAspPheTyrArgAspTrpArgArgHisLeuProSerGlyProGluArgTyrGlnAlaLeuLeuGlnLeuGlyGlyProArgLeuGlyCysLeuPheGlnThrAspValGlyPheGlyLeuLeuGlyGluLeuLeuValAlaLeuAlaAspHisValGlyProAlaAspArgAlaAlaValLeuGlyIleLeuCysSerLeuAlaSerThrGlyArgPheThrLeuAsnLeuSerLeuLeuSerArgAlaGluArgGluSerCysLysGlyLeuPheGlnLysLeuGlnAlaMetGlyAsnProArgSerValLysGluGlyLeuSerTrpGluGluGlnGlyLeuGluGluGlnSerGlyGlyLeuGlnGluGluGluArgLeuLeuGlnGluLeuLeuGluLeuTyrGlnValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680832"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826472251",
      "coordinates": [
        {
          "allele": "T",
          "end": 239,
          "referenceAllele": "C",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032700",
      "geneNCBI_id": 388389,
      "geneSymbol": "CCDC103",
      "hgvs": [
        "NM_001258398.2:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245327.1:p.Gln39Ter",
        "hgvsWellDefined": "NP_001245327.1:p.Gln39_Cys103delinsArgValAlaSerTyrGluGluPheArgGlyIleValLeuAlaSerHisLeuLysProLeuGluArgLysAspLysMetGlyGlyLysArgThrValProTrpAsnCysHisThrIleGlnGlyArgThrPheGlnAspValAlaThrGluIleSerProValGluSerProProProAlaArgAspValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680833"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826472301",
      "coordinates": [
        {
          "allele": "T",
          "end": 255,
          "referenceAllele": "C",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032700",
      "geneNCBI_id": 388389,
      "geneSymbol": "CCDC103",
      "hgvs": [
        "NM_001258399.2:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245328.1:p.Gln39Ter",
        "hgvsWellDefined": "NP_001245328.1:p.Gln39_Cys104delinsArgValAlaSerTyrGluGluPheArgGlyIleValLeuAlaSerHisLeuLysProLeuGluArgLysAspLysMetGlyGlyLysArgThrValProTrpAsnCysHisThrIleGlnGlyArgThrPheGlnAspValAlaThrGluIleSerProValGlyGluSerProProProAlaArgAspValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680834"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645463273",
      "coordinates": [
        {
          "allele": "T",
          "end": 255,
          "referenceAllele": "C",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032700",
      "geneNCBI_id": 388389,
      "geneSymbol": "CCDC103",
      "hgvs": [
        "NM_213607.3:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_998772.1:p.Gln39Ter",
        "hgvsWellDefined": "NP_998772.1:p.Gln39_Asp242delinsArgValAlaSerTyrGluGluPheArgGlyIleValLeuAlaSerHisLeuLysProLeuGluArgLysAspLysMetGlyGlyLysArgThrValProTrpAsnCysHisThrIleGlnGlyArgThrPheGlnAspValAlaThrGluIleSerProGluLysAlaProLeuGlnProGluThrSerAlaAspPheTyrArgAspTrpArgArgHisLeuProSerGlyProGluArgTyrGlnAlaLeuLeuGlnLeuGlyGlyProArgLeuGlyCysLeuPheGlnThrAspValGlyPheGlyLeuLeuGlyGluLeuLeuValAlaLeuAlaAspHisValGlyProAlaAspArgAlaAlaValLeuGlyIleLeuCysSerLeuAlaSerThrGlyArgPheThrLeuAsnLeuSerLeuLeuSerArgAlaGluArgGluSerCysLysGlyLeuPheGlnLysLeuGlnAlaMetGlyAsnProArgSerValLysGluGlyLeuSerTrpGluGluGlnGlyLeuGluGluGlnSerGlyGlyLeuGlnGluGluGluArgLeuLeuGlnGluLeuLeuGluLeuTyrGlnValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000417826.3:c.115C>T"
          },
          "RefSeq": {
            "hgvs": "NM_213607.3:c.115C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000391692.2:p.Gln39Ter"
          },
          "RefSeq": {
            "hgvs": "NP_998772.1:p.Gln39Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826472217",
      "coordinates": [
        {
          "allele": "T",
          "end": 255,
          "referenceAllele": "C",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032700",
      "geneNCBI_id": 388389,
      "geneSymbol": "CCDC103",
      "hgvs": [
        "NM_001258397.3:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245326.1:p.Gln39Ter",
        "hgvsWellDefined": "NP_001245326.1:p.Gln39_Ser98delinsArgValAlaSerTyrGluGluPheArgGlyIleValLeuAlaSerHisLeuLysProLeuGluArgLysAspLysMetGlyGlyLysArgThrValProTrpAsnCysHisThrIleGlnGlyArgThrPheGlnAspValAlaThrGluIleSerProAsnSerTrpLysSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714960"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826472251",
      "coordinates": [
        {
          "allele": "T",
          "end": 239,
          "referenceAllele": "C",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032700",
      "geneNCBI_id": 388389,
      "geneSymbol": "CCDC103",
      "hgvs": [
        "NM_001258398.3:c.115C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245327.1:p.Gln39Ter",
        "hgvsWellDefined": "NP_001245327.1:p.Gln39_Cys103delinsArgValAlaSerTyrGluGluPheArgGlyIleValLeuAlaSerHisLeuLysProLeuGluArgLysAspLysMetGlyGlyLysArgThrValProTrpAsnCysHisThrIleGlnGlyArgThrPheGlnAspValAlaThrGluIleSerProValGluSerProProProAlaArgAspValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714961"
    }
  ],
  "type": "nucleotide"
}