{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041788",
  "communityStandardTitle": [
    "NM_001042432.2(CLN3):c.683dup (p.Leu230ValfsTer6)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358371[alleleid]",
        "alleleId": 358371,
        "preferredName": "NM_001042432.2(CLN3):c.683dup (p.Leu230fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370233",
        "RCV": [
          "RCV000411858"
        ],
        "variationId": 370233
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.28495434dupA?assembly=hg19",
        "id": "chr16:g.28495434dupA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.28495433_28495434insA?assembly=hg19",
        "id": "chr16:g.28495433_28495434insA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.28484113dupA?assembly=hg38",
        "id": "chr16:g.28484113dupA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.28484112_28484113insA?assembly=hg38",
        "id": "chr16:g.28484112_28484113insA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516335",
        "rs": 1057516335
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 28484115,
          "referenceAllele": "",
          "start": 28484115
        }
      ],
      "hgvs": [
        "NC_000016.10:g.28484115dup",
        "CM000678.2:g.28484115dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 28495436,
          "referenceAllele": "",
          "start": 28495436
        }
      ],
      "hgvs": [
        "NC_000016.9:g.28495436dup",
        "CM000678.1:g.28495436dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 28402937,
          "referenceAllele": "",
          "start": 28402937
        }
      ],
      "hgvs": [
        "NC_000016.8:g.28402937dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13190,
          "referenceAllele": "",
          "start": 13190
        }
      ],
      "hgvs": [
        "NG_008654.2:g.13190dup",
        "LRG_689:g.13190dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001147"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 743,
          "referenceAllele": "",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000333496.14:c.611dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329171.9:p.Leu206ValfsTer6",
        "hgvsWellDefined": "ENSP00000329171.9:p.[Leu206_Glu211delinsVal;Gln213_Glu222delinsHisIle;Ala225_Ala234del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "referenceAllele": "",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000355477.10:c.539dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347660.7:p.Leu182ValfsTer6",
        "hgvsWellDefined": "ENSP00000347660.7:p.[Leu182_Glu187delinsVal;Gln189_Glu198delinsHisIle;Ala201_Ala210del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 850,
          "referenceAllele": "",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000357857.14:c.521dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350523.9:p.Leu176ValfsTer6",
        "hgvsWellDefined": "ENSP00000350523.9:p.[Leu176_Glu181delinsVal;Gln183_Glu192delinsHisIle;Ala195_Ala204del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000359984.12:c.683dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353073.9:p.Leu230ValfsTer6",
        "hgvsWellDefined": "ENSP00000353073.9:p.[Leu230_Glu235delinsVal;Gln237_Glu246delinsHisIle;Ala249_Ala258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 970,
          "referenceAllele": "",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000360019.8:c.611dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353116.3:p.Leu206ValfsTer6",
        "hgvsWellDefined": "ENSP00000353116.3:p.[Leu206_Glu211delinsVal;Gln213_Glu222delinsHisIle;Ala225_Ala234del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000395653.9:c.224dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379014.5:p.Leu77ValfsTer6",
        "hgvsWellDefined": "ENSP00000379014.5:p.[Leu77_Glu82delinsVal;Gln84_Glu93delinsHisIle;Ala96_Ala105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 968,
          "referenceAllele": "",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000561689.6:n.968dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23,
          "referenceAllele": "",
          "start": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000564091.6:c.23dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454466.2:p.Leu10ValfsTer6",
        "hgvsWellDefined": "ENSP00000454466.2:p.[Leu10_Glu15delinsVal;Gln17_Glu26delinsHisIle;Ala29_Ala38del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565316.6:c.683dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456117.1:p.Leu230ValfsTer6",
        "hgvsWellDefined": "ENSP00000456117.1:p.[Leu230_Glu235delinsVal;Gln237_Glu246delinsHisIle;Ala249_Ala258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 501,
          "referenceAllele": "",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565778.6:c.314dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458015.1:p.Leu107ValfsTer6",
        "hgvsWellDefined": "ENSP00000458015.1:p.[Leu107_Glu112delinsVal;Gln114_Glu123delinsHisIle;Ala126_Ala135del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1141,
          "referenceAllele": "",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566083.6:n.1141dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "referenceAllele": "",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566824.6:n.663dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 732,
          "referenceAllele": "",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567495.6:c.*142dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456013.2:n.*142dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760525"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567963.6:c.521dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455387.2:p.Leu176ValfsTer6",
        "hgvsWellDefined": "ENSP00000455387.2:p.[Leu176_Glu181delinsVal;Gln183_Glu192delinsHisIle;Ala195_Ala204del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568076.6:n.810dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "referenceAllele": "",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568422.6:c.466dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455549.2:p.Ser156PhefsTer?",
        "hgvsWellDefined": "ENSP00000455549.2:p.[Ser156_Cys158delinsPheLeuLeuLeuThr;His160_Leu167delinsProGluAlaGlnAspProGlyGly;Gly169_Arg174delinsGluGluAlaGluSerAla;Ala175_Gln176insArg;Gly178_Ser181delinsLeuIleArgThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 786,
          "referenceAllele": "",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568452.6:n.786dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 559,
          "referenceAllele": "",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568472.6:n.559dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "referenceAllele": "",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568497.6:c.-287dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456414.2:n.-287dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568558.6:c.386dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455603.2:p.Leu131ValfsTer6",
        "hgvsWellDefined": "ENSP00000455603.2:p.[Leu131_Glu136delinsVal;Gln138_Glu147delinsHisIle;Ala150_Ala159del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3011,
          "referenceAllele": "",
          "start": 3011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000569430.7:c.683dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454229.1:p.Leu230ValfsTer6",
        "hgvsWellDefined": "ENSP00000454229.1:p.[Leu230_Glu235delinsVal;Gln237_Glu246delinsHisIle;Ala249_Ala258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 505,
          "referenceAllele": "",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000628023.3:c.228dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486178.1:p.Leu77SerfsTer27",
        "hgvsWellDefined": "ENSP00000486178.1:p.[Phe76_Leu77insSerCysCysSerHis;Val78delinsLeuArgProArgThrLeuGluGlyLysLysLysGlnArg;His80_Ile81delinsGlnProGlySerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000635861.1:c.*207dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490034.1:n.*207dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "referenceAllele": "",
          "start": 781
        }
      ],
      "hgvs": [
        "ENST00000635887.1:c.683dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490709.1:p.Leu230ValfsTer6",
        "hgvsWellDefined": "ENSP00000490709.1:p.[Leu230_Glu235delinsVal;Gln237_Glu246delinsHisIle;Ala249_Ala258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "referenceAllele": "",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000635958.1:n.794dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000635973.1:c.434dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490363.1:p.Leu147ValfsTer6",
        "hgvsWellDefined": "ENSP00000490363.1:p.[Leu147_Glu152delinsVal;Gln154_Glu163delinsHisIle;Ala166_Ala175del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "referenceAllele": "",
          "start": 758
        }
      ],
      "hgvs": [
        "ENST00000636017.1:c.*207dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490538.1:n.*207dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 725,
          "referenceAllele": "",
          "start": 725
        }
      ],
      "hgvs": [
        "ENST00000636078.1:n.725dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636147.2:c.683dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490105.1:p.Leu230ValfsTer6",
        "hgvsWellDefined": "ENSP00000490105.1:p.[Leu230_Glu235delinsVal;Gln237_Glu246delinsHisIle;Ala249_Ala258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762906",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636147.2:c.683dup"
          },
          "RefSeq": {
            "hgvs": "NM_001042432.2:c.683dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490105.1:p.Leu230ValfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_001035897.1:p.Leu230ValfsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636172.1:c.*207dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490505.1:n.*207dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "referenceAllele": "",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636228.1:c.377dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489627.1:p.Leu128ValfsTer6",
        "hgvsWellDefined": "ENSP00000489627.1:p.[Leu128_Glu133delinsVal;Gln135_Glu144delinsHisIle;Ala147_Ala156del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 403,
          "referenceAllele": "",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636351.1:n.403dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "",
          "start": 714
        }
      ],
      "hgvs": [
        "ENST00000636503.1:c.683dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489824.1:p.Leu230ValfsTer6",
        "hgvsWellDefined": "ENSP00000489824.1:p.[Leu230_Glu235delinsVal;Gln237_Glu246delinsHisIle;Ala249_Ala258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763165"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190,
          "referenceAllele": "",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636685.1:n.190dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "",
          "start": 814
        }
      ],
      "hgvs": [
        "ENST00000636766.1:c.683dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489841.1:p.Leu230ValfsTer6",
        "hgvsWellDefined": "ENSP00000489841.1:p.[Leu230_Glu235delinsVal;Gln237_Glu246delinsHisIle;Ala249_Ala258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 835,
          "referenceAllele": "",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636839.1:n.835dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1598,
          "referenceAllele": "",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636853.1:n.1598dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "",
          "start": 787
        }
      ],
      "hgvs": [
        "ENST00000636866.1:c.683dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490880.1:p.Leu230ValfsTer6",
        "hgvsWellDefined": "ENSP00000490880.1:p.[Leu230_Glu235delinsVal;Gln237_Glu246delinsHisIle;Ala249_Ala258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "referenceAllele": "",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636907.1:n.834dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1751,
          "referenceAllele": "",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636977.1:n.1751dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637050.1:n.770dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637100.1:c.683dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490394.1:p.Leu230ValfsTer6",
        "hgvsWellDefined": "ENSP00000490394.1:p.[Leu230_Glu235delinsVal;Gln237_Glu246delinsHisIle;Ala249_Ala258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1115,
          "referenceAllele": "",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637107.1:c.*207dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490248.1:n.*207dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637184.1:c.683dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489952.1:p.Leu230ValfsTer6",
        "hgvsWellDefined": "ENSP00000489952.1:p.[Leu230_Glu235delinsVal;Gln237_Glu246delinsHisIle;Ala249_Ala258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "referenceAllele": "",
          "start": 740
        }
      ],
      "hgvs": [
        "ENST00000637299.1:c.*492dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489823.1:n.*492dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 802,
          "referenceAllele": "",
          "start": 802
        }
      ],
      "hgvs": [
        "ENST00000637376.1:c.683dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490758.1:p.Leu230ValfsTer6",
        "hgvsWellDefined": "ENSP00000490758.1:p.[Leu230_Glu235delinsVal;Gln237_Glu246delinsHisIle;Ala249_Ala258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 788,
          "referenceAllele": "",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637578.1:c.*207dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490206.1:n.*207dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763960"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637699.1:c.466dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490049.1:p.Ser156PhefsTer?",
        "hgvsWellDefined": "ENSP00000490049.1:p.[Ser156_Cys158delinsPheLeuLeuLeuThr;His160_Leu167delinsProGluAlaGlnAspProGlyGly;Gly169_Arg174delinsGluGluAlaGluSerAla;Ala175_Gln176insArg;Gly178_Ser181delinsLeuIleArgThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764047"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22,
          "referenceAllele": "",
          "start": 22
        }
      ],
      "hgvs": [
        "ENST00000637745.1:c.22dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764079"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637871.1:c.*207dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490670.1:n.*207dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "referenceAllele": "",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000333496.13:c.611dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329171.9:p.Leu206ValfsTer6",
        "hgvsWellDefined": "ENSP00000329171.9:p.[Leu206_Glu211delinsVal;Gln213_Glu222delinsHisIle;Ala225_Ala234del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 789,
          "referenceAllele": "",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000355477.9:c.466dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347660.6:p.Ser156PhefsTer?",
        "hgvsWellDefined": "ENSP00000347660.6:p.[Ser156_Cys158delinsPheLeuLeuLeuThr;His160_Leu167delinsProGluAlaGlnAspProGlyGly;Gly169_Arg174delinsGluGluAlaGluSerAla;Ala175_Gln176insArg;Gly178_Ser181delinsLeuIleArgThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "referenceAllele": "",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000357806.11:c.386dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350457.7:p.Leu131ValfsTer6",
        "hgvsWellDefined": "ENSP00000350457.7:p.[Leu131_Glu136delinsVal;Gln138_Glu147delinsHisIle;Ala150_Ala159del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 698,
          "referenceAllele": "",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000357857.13:c.521dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350523.9:p.Leu176ValfsTer6",
        "hgvsWellDefined": "ENSP00000350523.9:p.[Leu176_Glu181delinsVal;Gln183_Glu192delinsHisIle;Ala195_Ala204del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 862,
          "referenceAllele": "",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000359984.11:c.377dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353073.8:p.Leu128ValfsTer6",
        "hgvsWellDefined": "ENSP00000353073.8:p.[Leu128_Glu133delinsVal;Gln135_Glu144delinsHisIle;Ala147_Ala156del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264975"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1042,
          "referenceAllele": "",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000360019.6:c.683dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353116.2:p.Leu230ValfsTer6",
        "hgvsWellDefined": "ENSP00000353116.2:p.[Leu230_Glu235delinsVal;Gln237_Glu246delinsHisIle;Ala249_Ala258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 788,
          "referenceAllele": "",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000395653.8:c.383dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379014.4:p.Leu130ValfsTer6",
        "hgvsWellDefined": "ENSP00000379014.4:p.[Leu130_Glu135delinsVal;Gln137_Glu146delinsHisIle;Ala149_Ala158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276815"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 524,
          "referenceAllele": "",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000561689.5:n.524dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2037,
          "referenceAllele": "",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000563874.5:n.2037dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 731,
          "referenceAllele": "",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000564574.5:n.731dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 277,
          "referenceAllele": "",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565047.1:n.277dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565140.5:c.466dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455342.1:p.Ser156PhefsTer?",
        "hgvsWellDefined": "ENSP00000455342.1:p.[Ser156_Cys158delinsPheLeuLeuLeuThr;His160_Leu167delinsProGluAlaGlnAspProGlyGly;Gly169_Arg174delinsGluGluAlaGluSerAla;Ala175_Gln176insArg;Gly178_Ser181delinsLeuIleArgThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565316.5:c.683dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456117.1:p.Leu230ValfsTer6",
        "hgvsWellDefined": "ENSP00000456117.1:p.[Leu230_Glu235delinsVal;Gln237_Glu246delinsHisIle;Ala249_Ala258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "referenceAllele": "",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565688.5:c.434dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456122.1:p.Leu147ValfsTer6",
        "hgvsWellDefined": "ENSP00000456122.1:p.[Leu147_Glu152delinsVal;Gln154_Glu163delinsHisIle;Ala166_Ala175del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565778.5:c.314dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458015.1:p.Leu107ValfsTer6",
        "hgvsWellDefined": "ENSP00000458015.1:p.[Leu107_Glu112delinsVal;Gln114_Glu123delinsHisIle;Ala126_Ala135del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 297,
          "referenceAllele": "",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566057.5:c.297dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456693.1:p.Leu100SerfsTer27",
        "hgvsWellDefined": "ENSP00000456693.1:p.[Phe99_Leu100insSerCysCysSerHis;Val101delinsLeuArgProArgThrLeuGluGlyLysLysLysGlnArg;His103_Ile104delinsGlnProGlySerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 914,
          "referenceAllele": "",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566083.5:n.914dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 732,
          "referenceAllele": "",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566824.5:n.732dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "referenceAllele": "",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567495.5:c.466dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456013.1:p.Ser156PhefsTer?",
        "hgvsWellDefined": "ENSP00000456013.1:p.[Ser156_Cys158delinsPheLeuLeuLeuThr;His160_Leu167delinsProGluAlaGlnAspProGlyGly;Gly169_Arg174delinsGluGluAlaGluSerAla;Ala175_Gln176insArg;Gly178_Ser181delinsLeuIleArgThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 795,
          "referenceAllele": "",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567963.5:c.683dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455387.1:p.Leu230ValfsTer6",
        "hgvsWellDefined": "ENSP00000455387.1:p.[Leu230_Glu235delinsVal;Gln237_Glu246delinsHisIle;Ala249_Ala258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568076.5:n.466dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 785,
          "referenceAllele": "",
          "start": 785
        }
      ],
      "hgvs": [
        "ENST00000568224.4:c.449dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454253.1:p.Leu152ValfsTer6",
        "hgvsWellDefined": "ENSP00000454253.1:p.[Leu152_Glu157delinsVal;Gln159_Glu168delinsHisIle;Ala171_Ala180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "referenceAllele": "",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568422.5:c.319dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455549.1:p.Ser107PhefsTer?",
        "hgvsWellDefined": "ENSP00000455549.1:p.[Ser107_Cys109delinsPheLeuLeuLeuThr;His111_Leu118delinsProGluAlaGlnAspProGlyGly;Gly120_Arg125delinsGluGluAlaGluSerAla;Ala126_Gln127insArg;Gly129_Ser132delinsLeuIleArgThrGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568452.5:n.683dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 163,
          "referenceAllele": "",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568472.5:n.163dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 327,
          "referenceAllele": "",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568497.5:c.228dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456414.1:p.Leu77SerfsTer27",
        "hgvsWellDefined": "ENSP00000456414.1:p.[Phe76_Leu77insSerCysCysSerHis;Val78delinsLeuArgProArgThrLeuGluGlyLysLysLysGlnArg;His80_Ile81delinsGlnProGlySerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 407,
          "referenceAllele": "",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568558.5:c.224dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455603.1:p.Leu77ValfsTer6",
        "hgvsWellDefined": "ENSP00000455603.1:p.[Leu77_Glu82delinsVal;Gln84_Glu93delinsHisIle;Ala96_Ala105del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 460,
          "endIntronDirection": "-",
          "endIntronOffset": 1440,
          "referenceAllele": "",
          "start": 460,
          "startIntronDirection": "-",
          "startIntronOffset": 1440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000569030.5:c.461-1441dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454680.1:n.461-1441dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1503,
          "referenceAllele": "",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000569430.5:c.683dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454229.1:p.Leu230ValfsTer6",
        "hgvsWellDefined": "ENSP00000454229.1:p.[Leu230_Glu235delinsVal;Gln237_Glu246delinsHisIle;Ala249_Ala258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 551,
          "referenceAllele": "",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000628023.2:c.228dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486178.1:p.Leu77SerfsTer27",
        "hgvsWellDefined": "ENSP00000486178.1:p.[Phe76_Leu77insSerCysCysSerHis;Val78delinsLeuArgProArgThrLeuGluGlyLysLysLysGlnArg;His80_Ile81delinsGlnProGlySerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1006,
          "referenceAllele": "",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000631023.2:c.683dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486616.1:p.Leu230ValfsTer6",
        "hgvsWellDefined": "ENSP00000486616.1:p.[Leu230_Glu235delinsVal;Gln237_Glu246delinsHisIle;Ala249_Ala258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1006,
          "referenceAllele": "",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_000086.2:c.683dup",
        "LRG_689t1:c.683dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000077.1:p.Leu230ValfsTer6",
        "hgvsWellDefined": "NP_000077.1:p.[Leu230_Glu235delinsVal;Gln237_Glu246delinsHisIle;Ala249_Ala258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1042,
          "referenceAllele": "",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001042432.1:c.683dup",
        "LRG_689t2:c.683dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035897.1:p.Leu230ValfsTer6",
        "hgvsWellDefined": "NP_001035897.1:p.[Leu230_Glu235delinsVal;Gln237_Glu246delinsHisIle;Ala249_Ala258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 970,
          "referenceAllele": "",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286104.1:c.611dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273033.1:p.Leu206ValfsTer6",
        "hgvsWellDefined": "NP_001273033.1:p.[Leu206_Glu211delinsVal;Gln213_Glu222delinsHisIle;Ala225_Ala234del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 847,
          "referenceAllele": "",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286105.1:c.383dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273034.1:p.Leu130ValfsTer6",
        "hgvsWellDefined": "NP_001273034.1:p.[Leu130_Glu135delinsVal;Gln137_Glu146delinsHisIle;Ala149_Ala158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 855,
          "referenceAllele": "",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286109.1:c.449dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273038.1:p.Leu152ValfsTer6",
        "hgvsWellDefined": "NP_001273038.1:p.[Leu152_Glu157delinsVal;Gln159_Glu168delinsHisIle;Ala171_Ala180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 927,
          "referenceAllele": "",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286110.1:c.521dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273039.1:p.Leu176ValfsTer6",
        "hgvsWellDefined": "NP_001273039.1:p.[Leu176_Glu181delinsVal;Gln183_Glu192delinsHisIle;Ala195_Ala204del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001042432.2:c.683dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035897.1:p.Leu230ValfsTer6",
        "hgvsWellDefined": "NP_001035897.1:p.[Leu230_Glu235delinsVal;Gln237_Glu246delinsHisIle;Ala249_Ala258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676015",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636147.2:c.683dup"
          },
          "RefSeq": {
            "hgvs": "NM_001042432.2:c.683dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490105.1:p.Leu230ValfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_001035897.1:p.Leu230ValfsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 742,
          "referenceAllele": "",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286104.2:c.611dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273033.1:p.Leu206ValfsTer6",
        "hgvsWellDefined": "NP_001273033.1:p.[Leu206_Glu211delinsVal;Gln213_Glu222delinsHisIle;Ala225_Ala234del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 839,
          "referenceAllele": "",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286105.2:c.383dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273034.1:p.Leu130ValfsTer6",
        "hgvsWellDefined": "NP_001273034.1:p.[Leu130_Glu135delinsVal;Gln137_Glu146delinsHisIle;Ala149_Ala158del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 847,
          "referenceAllele": "",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286109.2:c.449dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273038.1:p.Leu152ValfsTer6",
        "hgvsWellDefined": "NP_001273038.1:p.[Leu152_Glu157delinsVal;Gln159_Glu168delinsHisIle;Ala171_Ala180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682141"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 919,
          "referenceAllele": "",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286110.2:c.521dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273039.1:p.Leu176ValfsTer6",
        "hgvsWellDefined": "NP_001273039.1:p.[Leu176_Glu181delinsVal;Gln183_Glu192delinsHisIle;Ala195_Ala204del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682142"
    }
  ],
  "type": "nucleotide"
}