{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16620179",
  "communityStandardTitle": [
    "NM_001042432.2(CLN3):c.750del (p.Gln251SerfsTer4)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=409595[alleleid]",
        "alleleId": 409595,
        "preferredName": "NM_001042432.2(CLN3):c.750del (p.Gln251fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/423576",
        "RCV": [
          "RCV000481514"
        ],
        "variationId": 423576
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.28495367del?assembly=hg19",
        "id": "chr16:g.28495367del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.28484046del?assembly=hg38",
        "id": "chr16:g.28484046del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064796502",
        "rs": 1064796502
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 28484047,
          "referenceAllele": "C",
          "start": 28484046
        }
      ],
      "hgvs": [
        "NC_000016.10:g.28484047del",
        "CM000678.2:g.28484047del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 28495368,
          "referenceAllele": "C",
          "start": 28495367
        }
      ],
      "hgvs": [
        "NC_000016.9:g.28495368del",
        "CM000678.1:g.28495368del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 28402869,
          "referenceAllele": "C",
          "start": 28402868
        }
      ],
      "hgvs": [
        "NC_000016.8:g.28402869del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13257,
          "referenceAllele": "G",
          "start": 13256
        }
      ],
      "hgvs": [
        "NG_008654.2:g.13257del",
        "LRG_689:g.13257del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001147"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000333496.14:c.678del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329171.9:p.Gln227SerfsTer4",
        "hgvsWellDefined": "ENSP00000329171.9:p.[Gln227_Glu236del;Lys238del;Gly240del;Ser242_Gly256del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747316"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 606,
          "referenceAllele": "G",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000355477.10:c.606del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347660.7:p.Gln203SerfsTer4",
        "hgvsWellDefined": "ENSP00000347660.7:p.[Gln203_Glu212del;Lys214del;Gly216del;Ser218_Gly232del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748673"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 917,
          "referenceAllele": "G",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000357857.14:c.588del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350523.9:p.Gln197SerfsTer4",
        "hgvsWellDefined": "ENSP00000350523.9:p.[Gln197_Glu206del;Lys208del;Gly210del;Ser212_Gly226del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749000"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1065,
          "referenceAllele": "G",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000359984.12:c.750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353073.9:p.Gln251SerfsTer4",
        "hgvsWellDefined": "ENSP00000353073.9:p.[Gln251_Glu260del;Lys262del;Gly264del;Ser266_Gly280del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749261"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1037,
          "referenceAllele": "G",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000360019.8:c.678del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353116.3:p.Gln227SerfsTer4",
        "hgvsWellDefined": "ENSP00000353116.3:p.[Gln227_Glu236del;Lys238del;Gly240del;Ser242_Gly256del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749265"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 638,
          "referenceAllele": "G",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000395653.9:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379014.5:p.Gln98SerfsTer4",
        "hgvsWellDefined": "ENSP00000379014.5:p.[Gln98_Glu107del;Lys109del;Gly111del;Ser113_Gly127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753419"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1035,
          "referenceAllele": "G",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000561689.6:n.1035del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760329"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 90,
          "referenceAllele": "G",
          "start": 89
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000564091.6:c.90del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454466.2:p.Gln31SerfsTer4",
        "hgvsWellDefined": "ENSP00000454466.2:p.[Gln31_Glu40del;Lys42del;Gly44del;Ser46_Gly60del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760418"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565316.6:c.750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456117.1:p.Gln251SerfsTer4",
        "hgvsWellDefined": "ENSP00000456117.1:p.[Gln251_Glu260del;Lys262del;Gly264del;Ser266_Val280del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760462"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 568,
          "referenceAllele": "G",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565778.6:c.381del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458015.1:p.Gln128SerfsTer4",
        "hgvsWellDefined": "ENSP00000458015.1:p.[Gln128_Glu137del;Lys139del;Gly141del;Ser143_Gly157del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760476"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1208,
          "referenceAllele": "G",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566083.6:n.1208del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760483"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 730,
          "referenceAllele": "G",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566824.6:n.730del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760505"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 802,
          "referenceAllele": "G",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567963.6:c.588del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455387.2:p.Gln197SerfsTer4",
        "hgvsWellDefined": "ENSP00000455387.2:p.[Gln197_Glu206del;Lys208del;Gly210del;Ser212_Gly226del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760536"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 877,
          "referenceAllele": "G",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568076.6:n.877del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760540"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 606,
          "referenceAllele": "G",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568422.6:c.533del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455549.2:p.Gly178AlafsTer?",
        "hgvsWellDefined": "ENSP00000455549.2:p.[Pro177_Gly178insAlaAlaProHisLysAsnArg;Ser179delinsProGlyValGluAlaArgLeuGlnLeuGln;Pro180_Ser181insLeuPro;Ser181_Ter182insGlyLysValAspSerValGlnGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760549"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 853,
          "referenceAllele": "G",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568452.6:n.853del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760553"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 626,
          "referenceAllele": "G",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568472.6:n.626del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760556"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 453,
          "referenceAllele": "G",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568497.6:c.-220del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456414.2:n.-220del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760560"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 557,
          "referenceAllele": "G",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568558.6:c.453del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455603.2:p.Gln152SerfsTer4",
        "hgvsWellDefined": "ENSP00000455603.2:p.[Gln152_Glu161del;Lys163del;Gly165del;Ser167Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760564"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3078,
          "referenceAllele": "G",
          "start": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000569430.7:c.750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454229.1:p.Gln251SerfsTer4",
        "hgvsWellDefined": "ENSP00000454229.1:p.[Gln251_Glu260del;Lys262del;Gly264del;Ser266_Gly280del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760598"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 572,
          "referenceAllele": "G",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000628023.3:c.*46del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486178.1:n.*46del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762500"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 709,
          "referenceAllele": "G",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000635861.1:c.*274del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490034.1:n.*274del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762691"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 848,
          "referenceAllele": "G",
          "start": 847
        }
      ],
      "hgvs": [
        "ENST00000635887.1:c.750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490709.1:p.Gln251SerfsTer4",
        "hgvsWellDefined": "ENSP00000490709.1:p.[Gln251_Glu260del;Lys262del;Gly264del;Ser266_Gly280del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762712"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000635958.1:n.861del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762766"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000635973.1:c.501del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490363.1:p.Gln168SerfsTer4",
        "hgvsWellDefined": "ENSP00000490363.1:p.[Gln168_Glu177del;Lys179del;Gly181del;Ser183_Gly197del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762777"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 825,
          "referenceAllele": "G",
          "start": 824
        }
      ],
      "hgvs": [
        "ENST00000636017.1:c.*274del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490538.1:n.*274del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762811"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "hgvs": [
        "ENST00000636078.1:n.792del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762857"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 881,
          "referenceAllele": "G",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636147.2:c.750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490105.1:p.Gln251SerfsTer4",
        "hgvsWellDefined": "ENSP00000490105.1:p.[Gln251_Glu260del;Lys262del;Gly264del;Ser266_Gly280del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762906",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636147.2:c.750del"
          },
          "RefSeq": {
            "hgvs": "NM_001042432.2:c.750del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490105.1:p.Gln251SerfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_001035897.1:p.Gln251SerfsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 969,
          "referenceAllele": "G",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636172.1:c.*274del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490505.1:n.*274del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762924"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636228.1:c.444del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489627.1:p.Gln149SerfsTer4",
        "hgvsWellDefined": "ENSP00000489627.1:p.[Gln149_Glu158del;Lys160del;Gly162del;Ser164_Gly178del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762968"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 470,
          "referenceAllele": "G",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636351.1:n.470del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763055"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 781,
          "referenceAllele": "G",
          "start": 780
        }
      ],
      "hgvs": [
        "ENST00000636503.1:c.750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489824.1:p.Gln251SerfsTer4",
        "hgvsWellDefined": "ENSP00000489824.1:p.[Gln251_Glu260del;Lys262del;Gly264del;Ser266_Gly280del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763165"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 257,
          "referenceAllele": "G",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636685.1:n.257del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763307"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 881,
          "referenceAllele": "G",
          "start": 880
        }
      ],
      "hgvs": [
        "ENST00000636766.1:c.750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489841.1:p.Gln251SerfsTer4",
        "hgvsWellDefined": "ENSP00000489841.1:p.[Gln251_Glu260del;Lys262del;Gly264del;Ser266_Gly280del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763363"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 902,
          "referenceAllele": "G",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636839.1:n.902del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763420"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1665,
          "referenceAllele": "G",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636853.1:n.1665del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763430"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 854,
          "referenceAllele": "G",
          "start": 853
        }
      ],
      "hgvs": [
        "ENST00000636866.1:c.750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490880.1:p.Gln251SerfsTer4",
        "hgvsWellDefined": "ENSP00000490880.1:p.[Gln251_Glu260del;Lys262del;Gly264del;Ser266_Gly280del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763442"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 901,
          "referenceAllele": "G",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636907.1:n.901del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763472"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1818,
          "referenceAllele": "G",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000636977.1:n.1818del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763518"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 837,
          "referenceAllele": "G",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637050.1:n.837del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763573"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 877,
          "referenceAllele": "G",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637100.1:c.750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490394.1:p.Gln251SerfsTer4",
        "hgvsWellDefined": "ENSP00000490394.1:p.[Gln251_Glu260del;Lys262del;Gly264del;Ser266_Val280del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763613"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1182,
          "referenceAllele": "G",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637107.1:c.*274del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490248.1:n.*274del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763620"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 854,
          "referenceAllele": "G",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637184.1:c.750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489952.1:p.Gln251SerfsTer4",
        "hgvsWellDefined": "ENSP00000489952.1:p.[Gln251_Glu260del;Lys262del;Gly264del;Ser266_Gly280del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763674"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 807,
          "referenceAllele": "G",
          "start": 806
        }
      ],
      "hgvs": [
        "ENST00000637299.1:c.*559del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489823.1:n.*559del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763764"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 869,
          "referenceAllele": "G",
          "start": 868
        }
      ],
      "hgvs": [
        "ENST00000637376.1:c.750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490758.1:p.Gln251SerfsTer4",
        "hgvsWellDefined": "ENSP00000490758.1:p.[Gln251_Glu260del;Lys262del;Gly264del;Ser266_Gly280del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763821"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 855,
          "referenceAllele": "G",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637578.1:c.*274del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490206.1:n.*274del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763960"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 533,
          "referenceAllele": "G",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637699.1:c.533del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490049.1:p.Gly178AlafsTer?",
        "hgvsWellDefined": "ENSP00000490049.1:p.[Pro177_Gly178insAlaAlaProHisLysAsnArg;Ser179delinsProGlyValGluAlaArgLeuGlnLeuGln;Pro180_Ser181insLeuPro;Ser181_Ter182insGlyLysValAspSerValGlnGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764047"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 89,
          "referenceAllele": "G",
          "start": 88
        }
      ],
      "hgvs": [
        "ENST00000637745.1:c.89del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764079"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 801,
          "referenceAllele": "G",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000637871.1:c.*274del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490670.1:n.*274del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764171"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 777,
          "referenceAllele": "G",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000333496.13:c.678del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329171.9:p.Gln227SerfsTer4",
        "hgvsWellDefined": "ENSP00000329171.9:p.[Gln227_Glu236del;Lys238del;Gly240del;Ser242_Gly256del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259728"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 856,
          "referenceAllele": "G",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000355477.9:c.533del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347660.6:p.Gly178AlafsTer?",
        "hgvsWellDefined": "ENSP00000347660.6:p.[Pro177_Gly178insAlaAlaProHisLysAsnArg;Ser179delinsProGlyValGluAlaArgLeuGlnLeuGln;Pro180_Ser181insLeuPro;Ser181_Ter182insGlyLysValAspSerValGlnGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263442"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 677,
          "referenceAllele": "G",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000357806.11:c.453del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350457.7:p.Gln152SerfsTer4",
        "hgvsWellDefined": "ENSP00000350457.7:p.[Gln152_Glu161del;Lys163del;Gly165del;Ser167_Gly181del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264242"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 765,
          "referenceAllele": "G",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000357857.13:c.588del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350523.9:p.Gln197SerfsTer4",
        "hgvsWellDefined": "ENSP00000350523.9:p.[Gln197_Glu206del;Lys208del;Gly210del;Ser212_Gly226del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264252"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 929,
          "referenceAllele": "G",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000359984.11:c.444del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353073.8:p.Gln149SerfsTer4",
        "hgvsWellDefined": "ENSP00000353073.8:p.[Gln149_Glu158del;Lys160del;Gly162del;Ser164_Gly178del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264975"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1109,
          "referenceAllele": "G",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000360019.6:c.750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353116.2:p.Gln251SerfsTer4",
        "hgvsWellDefined": "ENSP00000353116.2:p.[Gln251_Glu260del;Lys262del;Gly264del;Ser266_Gly280del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264989"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 855,
          "referenceAllele": "G",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000395653.8:c.450del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379014.4:p.Gln151SerfsTer4",
        "hgvsWellDefined": "ENSP00000379014.4:p.[Gln151_Glu160del;Lys162del;Gly164del;Ser166_Gly180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276815"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000561689.5:n.591del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376280"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2104,
          "referenceAllele": "G",
          "start": 2103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000563874.5:n.2104del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377705"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000564574.5:n.798del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378178"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 344,
          "referenceAllele": "G",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565047.1:n.344del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378507"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 533,
          "referenceAllele": "G",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565140.5:c.533del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455342.1:p.Gly178AlafsTer?",
        "hgvsWellDefined": "ENSP00000455342.1:p.[Pro177_Gly178insAlaAlaProHisLysAsnArg;Ser179delinsProGlyValGluAlaArgLeuGlnLeuGln;Pro180_Ser181insLeuPro;Ser181_Ter182insGlyLysValAspSerValGlnGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378561"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565316.5:c.750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456117.1:p.Gln251SerfsTer4",
        "hgvsWellDefined": "ENSP00000456117.1:p.[Gln251_Glu260del;Lys262del;Gly264del;Ser266_Val280del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378672"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 621,
          "referenceAllele": "G",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565688.5:c.501del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456122.1:p.Gln168SerfsTer4",
        "hgvsWellDefined": "ENSP00000456122.1:p.[Gln168Ser;Leu170_Pro176delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378912"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 449,
          "referenceAllele": "G",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000565778.5:c.381del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458015.1:p.Gln128SerfsTer4",
        "hgvsWellDefined": "ENSP00000458015.1:p.[Gln128_Glu137del;Lys139del;Gly141del;Ser143_Gly157del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378967"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 364,
          "referenceAllele": "G",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566057.5:c.364del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456693.1:n.364del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379156"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 981,
          "referenceAllele": "G",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566083.5:n.981del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379178"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000566824.5:n.799del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379710"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 606,
          "referenceAllele": "G",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567495.5:c.533del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456013.1:p.Gly178AlafsTer?",
        "hgvsWellDefined": "ENSP00000456013.1:p.[Pro177_Gly178insAlaAlaProHisLysAsnArg;Ser179delinsProGlyValGluAlaArgLeuGlnLeuGln;Pro180_Ser181insLeuPro;Ser181_Ter182insGlyLysValAspSerValGlnGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380150"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 862,
          "referenceAllele": "G",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000567963.5:c.750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455387.1:p.Gln251SerfsTer4",
        "hgvsWellDefined": "ENSP00000455387.1:p.[Gln251_Glu260del;Lys262del;Gly264del;Ser266_Gly280del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380460"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 533,
          "referenceAllele": "G",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568076.5:n.533del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380536"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 852,
          "referenceAllele": "G",
          "start": 851
        }
      ],
      "hgvs": [
        "ENST00000568224.4:c.516del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454253.1:p.Gln173SerfsTer4",
        "hgvsWellDefined": "ENSP00000454253.1:p.[Gln173_Glu182del;Lys184del;Gly186del;Ser188_Gly202del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380632"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568422.5:c.386del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455549.1:p.Gly129AlafsTer?",
        "hgvsWellDefined": "ENSP00000455549.1:p.[Pro128_Gly129insAlaAlaProHisLysAsnArg;Ser130delinsProGlyValGluAlaArgLeuGlnLeuGln;Pro131_Ser132insLeuPro;Ser132_Ter133insGlyLysValAspSerValGlnGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380772"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568452.5:n.750del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380793"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 230,
          "referenceAllele": "G",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568472.5:n.230del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380808"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 394,
          "referenceAllele": "G",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568497.5:c.*46del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456414.1:n.*46del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380825"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 474,
          "referenceAllele": "G",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000568558.5:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455603.1:p.Gln98SerfsTer4",
        "hgvsWellDefined": "ENSP00000455603.1:p.[Gln98_Glu107del;Lys109del;Gly111del;Ser113_Gly127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380866"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 460,
          "endIntronDirection": "-",
          "endIntronOffset": 1373,
          "referenceAllele": "G",
          "start": 460,
          "startIntronDirection": "-",
          "startIntronOffset": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000569030.5:c.461-1374del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454680.1:n.461-1374del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381191"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1570,
          "referenceAllele": "G",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000569430.5:c.750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454229.1:p.Gln251SerfsTer4",
        "hgvsWellDefined": "ENSP00000454229.1:p.[Gln251_Glu260del;Lys262del;Gly264del;Ser266_Gly280del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381468"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 618,
          "referenceAllele": "G",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000628023.2:c.*46del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486178.1:n.*46del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406979"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1073,
          "referenceAllele": "G",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "ENST00000631023.2:c.750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486616.1:p.Gln251SerfsTer4",
        "hgvsWellDefined": "ENSP00000486616.1:p.[Gln251_Glu260del;Lys262del;Gly264del;Ser266_Gly280del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407459"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1073,
          "referenceAllele": "G",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_000086.2:c.750del",
        "LRG_689t1:c.750del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000077.1:p.Gln251SerfsTer4",
        "hgvsWellDefined": "NP_000077.1:p.[Gln251_Glu260del;Lys262del;Gly264del;Ser266_Gly280del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006150"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1109,
          "referenceAllele": "G",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001042432.1:c.750del",
        "LRG_689t2:c.750del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035897.1:p.Gln251SerfsTer4",
        "hgvsWellDefined": "NP_001035897.1:p.[Gln251_Glu260del;Lys262del;Gly264del;Ser266_Gly280del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009690"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1037,
          "referenceAllele": "G",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286104.1:c.678del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273033.1:p.Gln227SerfsTer4",
        "hgvsWellDefined": "NP_001273033.1:p.[Gln227_Glu236del;Lys238del;Gly240del;Ser242_Gly256del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022739"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 914,
          "referenceAllele": "G",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286105.1:c.450del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273034.1:p.Gln151SerfsTer4",
        "hgvsWellDefined": "NP_001273034.1:p.[Gln151_Glu160del;Lys162del;Gly164del;Ser166_Gly180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022740"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 922,
          "referenceAllele": "G",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286109.1:c.516del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273038.1:p.Gln173SerfsTer4",
        "hgvsWellDefined": "NP_001273038.1:p.[Gln173_Glu182del;Lys184del;Gly186del;Ser188_Gly202del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022744"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 994,
          "referenceAllele": "G",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286110.1:c.588del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273039.1:p.Gln197SerfsTer4",
        "hgvsWellDefined": "NP_001273039.1:p.[Gln197_Glu206del;Lys208del;Gly210del;Ser212_Gly226del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022745"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 881,
          "referenceAllele": "G",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001042432.2:c.750del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035897.1:p.Gln251SerfsTer4",
        "hgvsWellDefined": "NP_001035897.1:p.[Gln251_Glu260del;Lys262del;Gly264del;Ser266_Gly280del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676015",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636147.2:c.750del"
          },
          "RefSeq": {
            "hgvs": "NM_001042432.2:c.750del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490105.1:p.Gln251SerfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_001035897.1:p.Gln251SerfsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286104.2:c.678del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273033.1:p.Gln227SerfsTer4",
        "hgvsWellDefined": "NP_001273033.1:p.[Gln227_Glu236del;Lys238del;Gly240del;Ser242_Gly256del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682139"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 906,
          "referenceAllele": "G",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286105.2:c.450del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273034.1:p.Gln151SerfsTer4",
        "hgvsWellDefined": "NP_001273034.1:p.[Gln151_Glu160del;Lys162del;Gly164del;Ser166_Gly180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682140"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 914,
          "referenceAllele": "G",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286109.2:c.516del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273038.1:p.Gln173SerfsTer4",
        "hgvsWellDefined": "NP_001273038.1:p.[Gln173_Glu182del;Lys184del;Gly186del;Ser188_Gly202del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682141"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286110.2:c.588del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273039.1:p.Gln197SerfsTer4",
        "hgvsWellDefined": "NP_001273039.1:p.[Gln197_Glu206del;Lys208del;Gly210del;Ser212_Gly226del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682142"
    }
  ],
  "type": "nucleotide"
}