{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA633199586",
  "communityStandardTitle": [
    "NM_001386298.1(CIC):c.7517dup (p.Pro2507ThrfsTer16)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2417790[alleleid]",
        "alleleId": 2417790,
        "preferredName": "NM_001386298.1(CIC):c.7517dup (p.Pro2507fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2444056",
        "RCV": [
          "RCV003152854"
        ],
        "variationId": 2444056
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.42799300_42799301insC?assembly=hg19",
        "id": "chr19:g.42799300_42799301insC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.42799299_42799300insC?assembly=hg19",
        "id": "chr19:g.42799299_42799300insC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.42295147_42295148insC?assembly=hg38",
        "id": "chr19:g.42295147_42295148insC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1158987717",
        "rs": 1158987717
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-42799299-T-TC?dataset=gnomad_r2_1",
        "id": "19-42799299-T-TC",
        "variant": "19:42799299 T / TC"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-42295147-T-TC?dataset=gnomad_r3",
        "id": "19-42295147-T-TC",
        "variant": "19:42295147 T / TC"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-42295147-T-TC?dataset=gnomad_r4",
        "id": "19-42295147-T-TC",
        "variant": "19:42295147 T / TC"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 42295154,
          "referenceAllele": "",
          "start": 42295154
        }
      ],
      "hgvs": [
        "NC_000019.10:g.42295154dup",
        "CM000681.2:g.42295154dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 42799306,
          "referenceAllele": "",
          "start": 42799306
        }
      ],
      "hgvs": [
        "NC_000019.9:g.42799306dup",
        "CM000681.1:g.42799306dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 47491146,
          "referenceAllele": "",
          "start": 47491146
        }
      ],
      "hgvs": [
        "NC_000019.8:g.47491146dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 31618,
          "referenceAllele": "",
          "start": 31618
        }
      ],
      "hgvs": [
        "NG_042060.1:g.31618dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005916"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6597,
          "referenceAllele": "",
          "start": 6597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "ENST00000684265.1:n.6597dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7657,
          "referenceAllele": "",
          "start": 7657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "ENST00000681038.1:c.7517dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505728.1:p.Pro2507ThrfsTer16",
        "hgvsWellDefined": "ENSP00000505728.1:p.[Pro2507Thr;Gly2509_Pro2510delinsArgSerLeuHis;Thr2512_Gly2516delinsCysHisArgGlnVal;Arg2517_Ter2518insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780651",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000681038.1:c.7517dup"
          },
          "RefSeq": {
            "hgvs": "NM_001386298.1:c.7517dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000505728.1:p.Pro2507ThrfsTer16"
          },
          "RefSeq": {
            "hgvs": "NP_001373227.1:p.Pro2507ThrfsTer16"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5469,
          "referenceAllele": "",
          "start": 5469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "ENST00000160740.7:c.4784dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000160740.3:p.Pro1596ThrfsTer16",
        "hgvsWellDefined": "ENSP00000160740.3:p.[Pro1596Thr;Gly1598_Pro1599delinsArgSerLeuHis;Thr1601_Gly1605delinsCysHisArgGlnVal;Arg1606_Ter1607insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247627"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7576,
          "referenceAllele": "",
          "start": 7576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "ENST00000572681.6:c.7508dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459719.1:p.Pro2504ThrfsTer16",
        "hgvsWellDefined": "ENSP00000459719.1:p.[Pro2504Thr;Gly2506_Pro2507delinsArgSerLeuHis;Thr2509_Gly2513delinsCysHisArgGlnVal;Arg2514_Ter2515insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4830,
          "referenceAllele": "",
          "start": 4830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "ENST00000575354.6:c.4790dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458663.2:p.Pro1598ThrfsTer16",
        "hgvsWellDefined": "ENSP00000458663.2:p.[Pro1598Thr;Gly1600_Pro1601delinsArgSerLeuHis;Thr1603_Gly1607delinsCysHisArgGlnVal;Arg1608_Ter1609insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 924,
          "referenceAllele": "",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "ENST00000576505.6:c.924dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384504"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7585,
          "referenceAllele": "",
          "start": 7585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "NM_001304815.1:c.7517dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291744.1:p.Pro2507ThrfsTer16",
        "hgvsWellDefined": "NP_001291744.1:p.[Pro2507Thr;Gly2509_Pro2510delinsArgSerLeuHis;Thr2512_Gly2516delinsCysHisArgGlnVal;Arg2517_Ter2518insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4830,
          "referenceAllele": "",
          "start": 4830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "NM_015125.4:c.4790dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_055940.3:p.Pro1598ThrfsTer16",
        "hgvsWellDefined": "NP_055940.3:p.[Pro1598Thr;Gly1600_Pro1601delinsArgSerLeuHis;Thr1603_Gly1607delinsCysHisArgGlnVal;Arg1608_Ter1609insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4907,
          "referenceAllele": "",
          "start": 4907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_005258673.1:c.4784dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258730.1:p.Pro1596ThrfsTer16",
        "hgvsWellDefined": "XP_005258730.1:p.[Pro1596Thr;Gly1598_Pro1599delinsArgSerLeuHis;Thr1601_Gly1605delinsCysHisArgGlnVal;Arg1606_Ter1607insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062135"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4907,
          "referenceAllele": "",
          "start": 4907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_005258674.1:c.4784dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258731.1:p.Pro1596ThrfsTer16",
        "hgvsWellDefined": "XP_005258731.1:p.[Pro1596Thr;Gly1598_Pro1599delinsArgSerLeuHis;Thr1601_Gly1605delinsCysHisArgGlnVal;Arg1606_Ter1607insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062136"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4904,
          "referenceAllele": "",
          "start": 4904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_005258675.1:c.4781dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258732.1:p.Pro1595ThrfsTer16",
        "hgvsWellDefined": "XP_005258732.1:p.[Pro1595Thr;Gly1597_Pro1598delinsArgSerLeuHis;Thr1600_Gly1604delinsCysHisArgGlnVal;Arg1605_Ter1606insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062137"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7628,
          "referenceAllele": "",
          "start": 7628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_011526660.1:c.7517dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524962.1:p.Pro2507ThrfsTer16",
        "hgvsWellDefined": "XP_011524962.1:p.[Pro2507Thr;Gly2509_Pro2510delinsArgSerLeuHis;Thr2512_Gly2516delinsCysHisArgGlnVal;Arg2517_Ter2518insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7625,
          "referenceAllele": "",
          "start": 7625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_011526661.1:c.7514dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524963.1:p.Pro2506ThrfsTer16",
        "hgvsWellDefined": "XP_011524963.1:p.[Pro2506Thr;Gly2508_Pro2509delinsArgSerLeuHis;Thr2511_Gly2515delinsCysHisArgGlnVal;Arg2516_Ter2517insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093763"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7625,
          "referenceAllele": "",
          "start": 7625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_011526662.1:c.7514dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524964.1:p.Pro2506ThrfsTer16",
        "hgvsWellDefined": "XP_011524964.1:p.[Pro2506Thr;Gly2508_Pro2509delinsArgSerLeuHis;Thr2511_Gly2515delinsCysHisArgGlnVal;Arg2516_Ter2517insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7625,
          "referenceAllele": "",
          "start": 7625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_011526663.1:c.7514dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524965.1:p.Pro2506ThrfsTer16",
        "hgvsWellDefined": "XP_011524965.1:p.[Pro2506Thr;Gly2508_Pro2509delinsArgSerLeuHis;Thr2511_Gly2515delinsCysHisArgGlnVal;Arg2516_Ter2517insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7622,
          "referenceAllele": "",
          "start": 7622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_011526664.1:c.7511dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524966.1:p.Pro2505ThrfsTer16",
        "hgvsWellDefined": "XP_011524966.1:p.[Pro2505Thr;Gly2507_Pro2508delinsArgSerLeuHis;Thr2510_Gly2514delinsCysHisArgGlnVal;Arg2515_Ter2516insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093766"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7622,
          "referenceAllele": "",
          "start": 7622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_011526665.1:c.7511dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524967.1:p.Pro2505ThrfsTer16",
        "hgvsWellDefined": "XP_011524967.1:p.[Pro2505Thr;Gly2507_Pro2508delinsArgSerLeuHis;Thr2510_Gly2514delinsCysHisArgGlnVal;Arg2515_Ter2516insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7619,
          "referenceAllele": "",
          "start": 7619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_011526666.1:c.7508dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524968.1:p.Pro2504ThrfsTer16",
        "hgvsWellDefined": "XP_011524968.1:p.[Pro2504Thr;Gly2506_Pro2507delinsArgSerLeuHis;Thr2509_Gly2513delinsCysHisArgGlnVal;Arg2514_Ter2515insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093768"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4916,
          "referenceAllele": "",
          "start": 4916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_005258673.2:c.4784dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258730.1:p.Pro1596ThrfsTer16",
        "hgvsWellDefined": "XP_005258730.1:p.[Pro1596Thr;Gly1598_Pro1599delinsArgSerLeuHis;Thr1601_Gly1605delinsCysHisArgGlnVal;Arg1606_Ter1607insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4916,
          "referenceAllele": "",
          "start": 4916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_005258674.2:c.4784dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258731.1:p.Pro1596ThrfsTer16",
        "hgvsWellDefined": "XP_005258731.1:p.[Pro1596Thr;Gly1598_Pro1599delinsArgSerLeuHis;Thr1601_Gly1605delinsCysHisArgGlnVal;Arg1606_Ter1607insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534856"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4913,
          "referenceAllele": "",
          "start": 4913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_005258675.2:c.4781dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258732.1:p.Pro1595ThrfsTer16",
        "hgvsWellDefined": "XP_005258732.1:p.[Pro1595Thr;Gly1597_Pro1598delinsArgSerLeuHis;Thr1600_Gly1604delinsCysHisArgGlnVal;Arg1605_Ter1606insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534857"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7627,
          "referenceAllele": "",
          "start": 7627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_011526660.2:c.7517dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524962.1:p.Pro2507ThrfsTer16",
        "hgvsWellDefined": "XP_011524962.1:p.[Pro2507Thr;Gly2509_Pro2510delinsArgSerLeuHis;Thr2512_Gly2516delinsCysHisArgGlnVal;Arg2517_Ter2518insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7624,
          "referenceAllele": "",
          "start": 7624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_011526661.2:c.7514dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524963.1:p.Pro2506ThrfsTer16",
        "hgvsWellDefined": "XP_011524963.1:p.[Pro2506Thr;Gly2508_Pro2509delinsArgSerLeuHis;Thr2511_Gly2515delinsCysHisArgGlnVal;Arg2516_Ter2517insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7624,
          "referenceAllele": "",
          "start": 7624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_011526662.2:c.7514dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524964.1:p.Pro2506ThrfsTer16",
        "hgvsWellDefined": "XP_011524964.1:p.[Pro2506Thr;Gly2508_Pro2509delinsArgSerLeuHis;Thr2511_Gly2515delinsCysHisArgGlnVal;Arg2516_Ter2517insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7624,
          "referenceAllele": "",
          "start": 7624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_011526663.2:c.7514dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524965.1:p.Pro2506ThrfsTer16",
        "hgvsWellDefined": "XP_011524965.1:p.[Pro2506Thr;Gly2508_Pro2509delinsArgSerLeuHis;Thr2511_Gly2515delinsCysHisArgGlnVal;Arg2516_Ter2517insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7621,
          "referenceAllele": "",
          "start": 7621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_011526664.2:c.7511dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524966.1:p.Pro2505ThrfsTer16",
        "hgvsWellDefined": "XP_011524966.1:p.[Pro2505Thr;Gly2507_Pro2508delinsArgSerLeuHis;Thr2510_Gly2514delinsCysHisArgGlnVal;Arg2515_Ter2516insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548353"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7621,
          "referenceAllele": "",
          "start": 7621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_011526665.2:c.7511dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524967.1:p.Pro2505ThrfsTer16",
        "hgvsWellDefined": "XP_011524967.1:p.[Pro2505Thr;Gly2507_Pro2508delinsArgSerLeuHis;Thr2510_Gly2514delinsCysHisArgGlnVal;Arg2515_Ter2516insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548354"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7618,
          "referenceAllele": "",
          "start": 7618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_011526666.2:c.7508dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524968.1:p.Pro2504ThrfsTer16",
        "hgvsWellDefined": "XP_011524968.1:p.[Pro2504Thr;Gly2506_Pro2507delinsArgSerLeuHis;Thr2509_Gly2513delinsCysHisArgGlnVal;Arg2514_Ter2515insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7621,
          "referenceAllele": "",
          "start": 7621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_024451432.1:c.7511dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307200.1:p.Pro2505ThrfsTer16",
        "hgvsWellDefined": "XP_024307200.1:p.[Pro2505Thr;Gly2507_Pro2508delinsArgSerLeuHis;Thr2510_Gly2514delinsCysHisArgGlnVal;Arg2515_Ter2516insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7618,
          "referenceAllele": "",
          "start": 7618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XM_024451433.1:c.7508dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307201.1:p.Pro2504ThrfsTer16",
        "hgvsWellDefined": "XP_024307201.1:p.[Pro2504Thr;Gly2506_Pro2507delinsArgSerLeuHis;Thr2509_Gly2513delinsCysHisArgGlnVal;Arg2514_Ter2515insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7460,
          "referenceAllele": "",
          "start": 7460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XR_002958286.1:n.7460dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7457,
          "referenceAllele": "",
          "start": 7457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XR_002958287.1:n.7457dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7439,
          "referenceAllele": "",
          "start": 7439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XR_002958288.1:n.7439dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7436,
          "referenceAllele": "",
          "start": 7436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XR_002958289.1:n.7436dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7436,
          "referenceAllele": "",
          "start": 7436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "XR_002958290.1:n.7436dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7592,
          "referenceAllele": "",
          "start": 7592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "NM_001304815.2:c.7517dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291744.1:p.Pro2507ThrfsTer16",
        "hgvsWellDefined": "NP_001291744.1:p.[Pro2507Thr;Gly2509_Pro2510delinsArgSerLeuHis;Thr2512_Gly2516delinsCysHisArgGlnVal;Arg2517_Ter2518insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7654,
          "referenceAllele": "",
          "start": 7654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "NM_001379480.1:c.7514dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366409.1:p.Pro2506ThrfsTer16",
        "hgvsWellDefined": "NP_001366409.1:p.[Pro2506Thr;Gly2508_Pro2509delinsArgSerLeuHis;Thr2511_Gly2515delinsCysHisArgGlnVal;Arg2516_Ter2517insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7654,
          "referenceAllele": "",
          "start": 7654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "NM_001379482.1:c.7514dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366411.1:p.Pro2506ThrfsTer16",
        "hgvsWellDefined": "NP_001366411.1:p.[Pro2506Thr;Gly2508_Pro2509delinsArgSerLeuHis;Thr2511_Gly2515delinsCysHisArgGlnVal;Arg2516_Ter2517insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5020,
          "referenceAllele": "",
          "start": 5020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "NM_001379484.1:c.4784dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366413.1:p.Pro1596ThrfsTer16",
        "hgvsWellDefined": "NP_001366413.1:p.[Pro1596Thr;Gly1598_Pro1599delinsArgSerLeuHis;Thr1601_Gly1605delinsCysHisArgGlnVal;Arg1606_Ter1607insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5017,
          "referenceAllele": "",
          "start": 5017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "NM_001379485.1:c.4781dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366414.1:p.Pro1595ThrfsTer16",
        "hgvsWellDefined": "NP_001366414.1:p.[Pro1595Thr;Gly1597_Pro1598delinsArgSerLeuHis;Thr1600_Gly1604delinsCysHisArgGlnVal;Arg1605_Ter1606insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7657,
          "referenceAllele": "",
          "start": 7657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "NM_001386298.1:c.7517dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373227.1:p.Pro2507ThrfsTer16",
        "hgvsWellDefined": "NP_001373227.1:p.[Pro2507Thr;Gly2509_Pro2510delinsArgSerLeuHis;Thr2512_Gly2516delinsCysHisArgGlnVal;Arg2517_Ter2518insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724487",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000681038.1:c.7517dup"
          },
          "RefSeq": {
            "hgvs": "NM_001386298.1:c.7517dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000505728.1:p.Pro2507ThrfsTer16"
          },
          "RefSeq": {
            "hgvs": "NP_001373227.1:p.Pro2507ThrfsTer16"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5026,
          "referenceAllele": "",
          "start": 5026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "NM_015125.5:c.4790dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_055940.3:p.Pro1598ThrfsTer16",
        "hgvsWellDefined": "NP_055940.3:p.[Pro1598Thr;Gly1600_Pro1601delinsArgSerLeuHis;Thr1603_Gly1607delinsCysHisArgGlnVal;Arg1608_Ter1609insAspPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728035"
    }
  ],
  "type": "nucleotide"
}