{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3265270744",
  "communityStandardTitle": [
    "NM_001384140.1(PCDH15):c.4368-1892_4368-1890del"
  ],
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "",
          "end": 53822124,
          "referenceAllele": "CGT",
          "start": 53822121
        }
      ],
      "hgvs": [
        "NC_000010.11:g.53822122_53822124del",
        "CM000672.2:g.53822122_53822124del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "",
          "end": 55581884,
          "referenceAllele": "CGT",
          "start": 55581881
        }
      ],
      "hgvs": [
        "NC_000010.10:g.55581882_55581884del",
        "CM000672.1:g.55581882_55581884del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "",
          "end": 55251890,
          "referenceAllele": "CGT",
          "start": 55251887
        }
      ],
      "hgvs": [
        "NC_000010.9:g.55251888_55251890del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 984172,
          "referenceAllele": "CGA",
          "start": 984169
        }
      ],
      "hgvs": [
        "NG_009191.2:g.984170_984172del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001470"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1812063,
          "referenceAllele": "CGA",
          "start": 1812060
        }
      ],
      "hgvs": [
        "NG_009191.3:g.1812061_1812063del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616124"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4744,
          "endIntronDirection": "+",
          "endIntronOffset": 3016,
          "referenceAllele": "CGA",
          "start": 4744,
          "startIntronDirection": "+",
          "startIntronOffset": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000613657.6:c.4409+3014_4409+3016del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482794.1:n.4409+3014_4409+3016del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906246"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5941,
          "referenceAllele": "CGA",
          "start": 5938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000320301.11:c.5604_5606del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322604.6:p.Thr1869del",
        "hgvsWellDefined": "ENSP00000322604.6:p.Thr1869del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320301.11:c.5604_5606del"
          },
          "RefSeq": {
            "hgvs": "NM_033056.4:c.5604_5606del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322604.6:p.Thr1869del"
          },
          "RefSeq": {
            "hgvs": "NP_149045.3:p.Thr1869del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4723,
          "endIntronDirection": "+",
          "endIntronOffset": 5273,
          "referenceAllele": "CGA",
          "start": 4723,
          "startIntronDirection": "+",
          "startIntronOffset": 5270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395445.6:c.4388+5271_4388+5273del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378832.2:n.4388+5271_4388+5273del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824492"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4744,
          "endIntronDirection": "+",
          "endIntronOffset": 3016,
          "referenceAllele": "CGA",
          "start": 4744,
          "startIntronDirection": "+",
          "startIntronOffset": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000613657.5:c.4409+3014_4409+3016del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482794.1:n.4409+3014_4409+3016del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826440"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3226,
          "endIntronDirection": "-",
          "endIntronOffset": 1889,
          "referenceAllele": "CGA",
          "start": 3226,
          "startIntronDirection": "-",
          "startIntronOffset": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000642496.1:c.3227-1892_3227-1890del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766775"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4702,
          "endIntronDirection": "-",
          "endIntronOffset": 1889,
          "referenceAllele": "CGA",
          "start": 4702,
          "startIntronDirection": "-",
          "startIntronOffset": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000644397.2:c.4368-1892_4368-1890del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495195.1:n.4368-1892_4368-1890del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767798",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644397.2:c.4368-1892_4368-1890del"
          },
          "RefSeq": {
            "hgvs": "NM_001384140.1:c.4368-1892_4368-1890del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495195.1:n.4368-1892_4368-1890del"
          },
          "RefSeq": {
            "hgvs": "NP_001371069.1:n.4368-1892_4368-1890del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6001,
          "referenceAllele": "CGA",
          "start": 5998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000320301.10:c.5604_5606del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322604.6:p.Thr1869del",
        "hgvsWellDefined": "ENSP00000322604.6:p.Thr1869del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257786"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6007,
          "referenceAllele": "CGA",
          "start": 6004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000361849.7:c.5610_5612del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354950.3:p.Thr1871del",
        "hgvsWellDefined": "ENSP00000354950.3:p.Thr1871del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265685"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5921,
          "referenceAllele": "CGA",
          "start": 5918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000373956.7:c.*3559_*3561del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363067.4:n.*3559_*3561del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269984"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6022,
          "referenceAllele": "CGA",
          "start": 6019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000373957.7:c.5625_5627del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363068.4:p.Thr1876del",
        "hgvsWellDefined": "ENSP00000363068.4:p.Thr1876del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269985"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4768,
          "endIntronDirection": "+",
          "endIntronOffset": 3016,
          "referenceAllele": "CGA",
          "start": 4768,
          "startIntronDirection": "+",
          "startIntronOffset": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000373965.6:c.4373+3014_4373+3016del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363076.3:n.4373+3014_4373+3016del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269989"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5992,
          "referenceAllele": "CGA",
          "start": 5989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395430.5:c.5595_5597del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378818.1:p.Thr1866del",
        "hgvsWellDefined": "ENSP00000378818.1:p.Thr1866del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276682"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5881,
          "referenceAllele": "CGA",
          "start": 5878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395432.6:c.5484_5486del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378820.2:p.Thr1829del",
        "hgvsWellDefined": "ENSP00000378820.2:p.Thr1829del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276683"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5932,
          "referenceAllele": "CGA",
          "start": 5929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395433.5:c.5535_5537del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378821.1:p.Thr1846del",
        "hgvsWellDefined": "ENSP00000378821.1:p.Thr1846del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4766,
          "endIntronDirection": "+",
          "endIntronOffset": 5272,
          "referenceAllele": "CGA",
          "start": 4766,
          "startIntronDirection": "+",
          "startIntronOffset": 5269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395438.5:c.4371+5270_4371+5272del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378826.2:n.4371+5270_4371+5272del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276687"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1700,
          "endIntronDirection": "-",
          "endIntronOffset": 12573,
          "referenceAllele": "CGA",
          "start": 1700,
          "startIntronDirection": "-",
          "startIntronOffset": 12576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395440.5:c.1306-12576_1306-12574del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378827.1:n.1306-12576_1306-12574del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276689"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1493,
          "endIntronDirection": "-",
          "endIntronOffset": 12573,
          "referenceAllele": "CGA",
          "start": 1493,
          "startIntronDirection": "-",
          "startIntronOffset": 12576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395442.5:c.1099-12576_1099-12574del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378829.1:n.1099-12576_1099-12574del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276690"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4783,
          "endIntronDirection": "+",
          "endIntronOffset": 5273,
          "referenceAllele": "CGA",
          "start": 4783,
          "startIntronDirection": "+",
          "startIntronOffset": 5270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395445.5:c.4388+5271_4388+5273del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378832.2:n.4388+5271_4388+5273del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276692"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2486,
          "endIntronDirection": "-",
          "endIntronOffset": 12573,
          "referenceAllele": "CGA",
          "start": 2486,
          "startIntronDirection": "-",
          "startIntronOffset": 12576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395446.5:c.2092-12576_2092-12574del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378833.1:n.2092-12576_2092-12574del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276693"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3782,
          "endIntronDirection": "+",
          "endIntronOffset": 3016,
          "referenceAllele": "CGA",
          "start": 3782,
          "startIntronDirection": "+",
          "startIntronOffset": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000409834.5:c.3206+3014_3206+3016del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386693.1:n.3206+3014_3206+3016del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281889"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1832,
          "endIntronDirection": "+",
          "endIntronOffset": 5273,
          "referenceAllele": "CGA",
          "start": 1832,
          "startIntronDirection": "+",
          "startIntronOffset": 5270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000414367.5:c.*447+5271_*447+5273del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412531.1:n.*447+5271_*447+5273del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283498"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4765,
          "endIntronDirection": "+",
          "endIntronOffset": 5273,
          "referenceAllele": "CGA",
          "start": 4765,
          "startIntronDirection": "+",
          "startIntronOffset": 5270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000414778.5:c.4370+5271_4370+5273del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410304.2:n.4370+5271_4370+5273del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283681"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5794,
          "referenceAllele": "CGA",
          "start": 5791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000437009.5:c.5397_5399del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412628.2:p.Thr1800del",
        "hgvsWellDefined": "ENSP00000412628.2:p.Thr1800del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294256"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5927,
          "referenceAllele": "CGA",
          "start": 5924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000448885.5:c.*3565_*3567del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412320.1:n.*3565_*3567del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299940"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2625,
          "referenceAllele": "CGA",
          "start": 2622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000463095.2:n.2623_2625del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 852,
          "endIntronDirection": "-",
          "endIntronOffset": 4106,
          "referenceAllele": "CGA",
          "start": 852,
          "startIntronDirection": "-",
          "startIntronOffset": 4109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000495484.5:c.462-4109_462-4107del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480780.1:n.462-4109_462-4107del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332173"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4801,
          "endIntronDirection": "+",
          "endIntronOffset": 5273,
          "referenceAllele": "CGA",
          "start": 4801,
          "startIntronDirection": "+",
          "startIntronOffset": 5270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000612394.4:c.4406+5271_4406+5273del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482921.1:n.4406+5271_4406+5273del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401288"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4804,
          "endIntronDirection": "+",
          "endIntronOffset": 3016,
          "referenceAllele": "CGA",
          "start": 4804,
          "startIntronDirection": "+",
          "startIntronOffset": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000613657.4:c.4409+3014_4409+3016del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482794.1:n.4409+3014_4409+3016del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401842"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4780,
          "endIntronDirection": "+",
          "endIntronOffset": 5273,
          "referenceAllele": "CGA",
          "start": 4780,
          "startIntronDirection": "+",
          "startIntronOffset": 5270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000614895.4:c.4385+5271_4385+5273del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478512.1:n.4385+5271_4385+5273del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402396"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4762,
          "endIntronDirection": "+",
          "endIntronOffset": 5273,
          "referenceAllele": "CGA",
          "start": 4762,
          "startIntronDirection": "+",
          "startIntronOffset": 5270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000616114.4:c.4367+5271_4367+5273del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483745.1:n.4367+5271_4367+5273del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402916"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6028,
          "referenceAllele": "CGA",
          "start": 6025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000617051.4:c.5631_5633del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484703.1:p.Thr1878del",
        "hgvsWellDefined": "ENSP00000484703.1:p.Thr1878del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403320"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4768,
          "endIntronDirection": "+",
          "endIntronOffset": 3016,
          "referenceAllele": "CGA",
          "start": 4768,
          "startIntronDirection": "+",
          "startIntronOffset": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000617271.4:c.4373+3014_4373+3016del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478076.1:n.4373+3014_4373+3016del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403412"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 593,
          "endIntronDirection": "-",
          "endIntronOffset": 4106,
          "referenceAllele": "CGA",
          "start": 593,
          "startIntronDirection": "-",
          "startIntronOffset": 4109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000618301.4:c.594-4109_594-4107del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482780.1:n.594-4109_594-4107del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403875"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4783,
          "endIntronDirection": "+",
          "endIntronOffset": 3016,
          "referenceAllele": "CGA",
          "start": 4783,
          "startIntronDirection": "+",
          "startIntronOffset": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000621708.4:c.4388+3014_4388+3016del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484454.1:n.4388+3014_4388+3016del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405395"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5800,
          "referenceAllele": "CGA",
          "start": 5797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000622048.4:c.5403_5405del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482329.1:p.Thr1802del",
        "hgvsWellDefined": "ENSP00000482329.1:p.Thr1802del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139691412",
      "coordinates": [
        {
          "allele": "",
          "end": 6022,
          "referenceAllele": "CGA",
          "start": 6019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142763.1:c.5625_5627del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136235.1:p.Thr1876del",
        "hgvsWellDefined": "NP_001136235.1:p.Thr1876del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825819084",
      "coordinates": [
        {
          "allele": "",
          "end": 6007,
          "referenceAllele": "CGA",
          "start": 6004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142764.1:c.5610_5612del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136236.1:p.Thr1871del",
        "hgvsWellDefined": "NP_001136236.1:p.Thr1871del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825822482",
      "coordinates": [
        {
          "allele": "",
          "end": 5794,
          "referenceAllele": "CGA",
          "start": 5791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142765.1:c.5397_5399del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136237.1:p.Thr1800del",
        "hgvsWellDefined": "NP_001136237.1:p.Thr1800del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825826062",
      "coordinates": [
        {
          "allele": "",
          "end": 5992,
          "referenceAllele": "CGA",
          "start": 5989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142766.1:c.5595_5597del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136238.1:p.Thr1866del",
        "hgvsWellDefined": "NP_001136238.1:p.Thr1866del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825829522",
      "coordinates": [
        {
          "allele": "",
          "end": 5881,
          "referenceAllele": "CGA",
          "start": 5878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142767.1:c.5484_5486del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136239.1:p.Thr1829del",
        "hgvsWellDefined": "NP_001136239.1:p.Thr1829del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825833091",
      "coordinates": [
        {
          "allele": "",
          "end": 5941,
          "referenceAllele": "CGA",
          "start": 5938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142768.1:c.5544_5546del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136240.1:p.Thr1849del",
        "hgvsWellDefined": "NP_001136240.1:p.Thr1849del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013057"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4804,
          "endIntronDirection": "+",
          "endIntronOffset": 3016,
          "referenceAllele": "CGA",
          "start": 4804,
          "startIntronDirection": "+",
          "startIntronOffset": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142769.1:c.4409+3014_4409+3016del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136241.1:n.4409+3014_4409+3016del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013058"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4768,
          "endIntronDirection": "+",
          "endIntronOffset": 3016,
          "referenceAllele": "CGA",
          "start": 4768,
          "startIntronDirection": "+",
          "startIntronOffset": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142770.1:c.4373+3014_4373+3016del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136242.1:n.4373+3014_4373+3016del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013059"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4783,
          "endIntronDirection": "+",
          "endIntronOffset": 3016,
          "referenceAllele": "CGA",
          "start": 4783,
          "startIntronDirection": "+",
          "startIntronOffset": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142771.1:c.4388+3014_4388+3016del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136243.1:n.4388+3014_4388+3016del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013060"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4768,
          "endIntronDirection": "+",
          "endIntronOffset": 3016,
          "referenceAllele": "CGA",
          "start": 4768,
          "startIntronDirection": "+",
          "startIntronOffset": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142772.1:c.4373+3014_4373+3016del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136244.1:n.4373+3014_4373+3016del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825848340",
      "coordinates": [
        {
          "allele": "",
          "end": 5932,
          "referenceAllele": "CGA",
          "start": 5929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142773.1:c.5535_5537del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136245.1:p.Thr1846del",
        "hgvsWellDefined": "NP_001136245.1:p.Thr1846del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA138484",
      "coordinates": [
        {
          "allele": "",
          "end": 6001,
          "referenceAllele": "CGA",
          "start": 5998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_033056.3:c.5604_5606del"
      ],
      "proteinEffect": {
        "hgvs": "NP_149045.3:p.Thr1869del",
        "hgvsWellDefined": "NP_149045.3:p.Thr1869del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039496"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4804,
          "endIntronDirection": "+",
          "endIntronOffset": 3016,
          "referenceAllele": "CGA",
          "start": 4804,
          "startIntronDirection": "+",
          "startIntronOffset": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142769.2:c.4409+3014_4409+3016del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136241.1:n.4409+3014_4409+3016del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511559"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4768,
          "endIntronDirection": "+",
          "endIntronOffset": 3016,
          "referenceAllele": "CGA",
          "start": 4768,
          "startIntronDirection": "+",
          "startIntronOffset": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142770.2:c.4373+3014_4373+3016del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136242.1:n.4373+3014_4373+3016del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827851616",
      "coordinates": [
        {
          "allele": "",
          "end": 5902,
          "referenceAllele": "CGA",
          "start": 5899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354404.1:c.5538_5540del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341333.1:p.Thr1847del",
        "hgvsWellDefined": "NP_001341333.1:p.Thr1847del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522388"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4783,
          "endIntronDirection": "+",
          "endIntronOffset": 5273,
          "referenceAllele": "CGA",
          "start": 4783,
          "startIntronDirection": "+",
          "startIntronOffset": 5270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354411.1:c.4388+5271_4388+5273del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341340.1:n.4388+5271_4388+5273del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522395"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4762,
          "endIntronDirection": "+",
          "endIntronOffset": 5273,
          "referenceAllele": "CGA",
          "start": 4762,
          "startIntronDirection": "+",
          "startIntronOffset": 5270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354420.1:c.4367+5271_4367+5273del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341349.1:n.4367+5271_4367+5273del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522403"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4762,
          "endIntronDirection": "-",
          "endIntronOffset": 4106,
          "referenceAllele": "CGA",
          "start": 4762,
          "startIntronDirection": "-",
          "startIntronOffset": 4109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354429.1:c.4368-4109_4368-4107del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341358.1:n.4368-4109_4368-4107del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522412"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8165,
          "endIntronDirection": "+",
          "endIntronOffset": 3016,
          "referenceAllele": "CGA",
          "start": 8165,
          "startIntronDirection": "+",
          "startIntronOffset": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "XM_017016573.2:c.4388+3014_4388+3016del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872062.1:n.4388+3014_4388+3016del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568982"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6619,
          "referenceAllele": "CGA",
          "start": 6616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "XR_001747192.2:n.6617_6619del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595382"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6610,
          "referenceAllele": "CGA",
          "start": 6607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "XR_001747193.2:n.6608_6610del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139691412",
      "coordinates": [
        {
          "allele": "",
          "end": 5962,
          "referenceAllele": "CGA",
          "start": 5959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142763.2:c.5625_5627del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136235.1:p.Thr1876del",
        "hgvsWellDefined": "NP_001136235.1:p.Thr1876del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825819084",
      "coordinates": [
        {
          "allele": "",
          "end": 5947,
          "referenceAllele": "CGA",
          "start": 5944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142764.2:c.5610_5612del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136236.1:p.Thr1871del",
        "hgvsWellDefined": "NP_001136236.1:p.Thr1871del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825822482",
      "coordinates": [
        {
          "allele": "",
          "end": 5734,
          "referenceAllele": "CGA",
          "start": 5731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142765.2:c.5397_5399del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136237.1:p.Thr1800del",
        "hgvsWellDefined": "NP_001136237.1:p.Thr1800del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825826062",
      "coordinates": [
        {
          "allele": "",
          "end": 5932,
          "referenceAllele": "CGA",
          "start": 5929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142766.2:c.5595_5597del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136238.1:p.Thr1866del",
        "hgvsWellDefined": "NP_001136238.1:p.Thr1866del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825833091",
      "coordinates": [
        {
          "allele": "",
          "end": 5881,
          "referenceAllele": "CGA",
          "start": 5878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142768.2:c.5544_5546del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136240.1:p.Thr1849del",
        "hgvsWellDefined": "NP_001136240.1:p.Thr1849del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677618"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4744,
          "endIntronDirection": "+",
          "endIntronOffset": 3016,
          "referenceAllele": "CGA",
          "start": 4744,
          "startIntronDirection": "+",
          "startIntronOffset": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142769.3:c.4409+3014_4409+3016del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136241.1:n.4409+3014_4409+3016del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677619"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4708,
          "endIntronDirection": "+",
          "endIntronOffset": 3016,
          "referenceAllele": "CGA",
          "start": 4708,
          "startIntronDirection": "+",
          "startIntronOffset": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142770.3:c.4373+3014_4373+3016del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136242.1:n.4373+3014_4373+3016del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677620"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4723,
          "endIntronDirection": "+",
          "endIntronOffset": 3016,
          "referenceAllele": "CGA",
          "start": 4723,
          "startIntronDirection": "+",
          "startIntronOffset": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142771.2:c.4388+3014_4388+3016del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136243.1:n.4388+3014_4388+3016del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677621"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4708,
          "endIntronDirection": "+",
          "endIntronOffset": 3016,
          "referenceAllele": "CGA",
          "start": 4708,
          "startIntronDirection": "+",
          "startIntronOffset": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142772.2:c.4373+3014_4373+3016del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136244.1:n.4373+3014_4373+3016del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677622"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825848340",
      "coordinates": [
        {
          "allele": "",
          "end": 5872,
          "referenceAllele": "CGA",
          "start": 5869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142773.2:c.5535_5537del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136245.1:p.Thr1846del",
        "hgvsWellDefined": "NP_001136245.1:p.Thr1846del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677623"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4723,
          "endIntronDirection": "+",
          "endIntronOffset": 5273,
          "referenceAllele": "CGA",
          "start": 4723,
          "startIntronDirection": "+",
          "startIntronOffset": 5270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354411.2:c.4388+5271_4388+5273del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341340.1:n.4388+5271_4388+5273del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690159"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4702,
          "endIntronDirection": "+",
          "endIntronOffset": 5273,
          "referenceAllele": "CGA",
          "start": 4702,
          "startIntronDirection": "+",
          "startIntronOffset": 5270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354420.2:c.4367+5271_4367+5273del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341349.1:n.4367+5271_4367+5273del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690167"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4702,
          "endIntronDirection": "-",
          "endIntronOffset": 4106,
          "referenceAllele": "CGA",
          "start": 4702,
          "startIntronDirection": "-",
          "startIntronOffset": 4109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354429.2:c.4368-4109_4368-4107del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341358.1:n.4368-4109_4368-4107del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA138484",
      "coordinates": [
        {
          "allele": "",
          "end": 5941,
          "referenceAllele": "CGA",
          "start": 5938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_033056.4:c.5604_5606del"
      ],
      "proteinEffect": {
        "hgvs": "NP_149045.3:p.Thr1869del",
        "hgvsWellDefined": "NP_149045.3:p.Thr1869del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699254",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320301.11:c.5604_5606del"
          },
          "RefSeq": {
            "hgvs": "NM_033056.4:c.5604_5606del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322604.6:p.Thr1869del"
          },
          "RefSeq": {
            "hgvs": "NP_149045.3:p.Thr1869del"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825829522",
      "coordinates": [
        {
          "allele": "",
          "end": 5821,
          "referenceAllele": "CGA",
          "start": 5818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142767.2:c.5484_5486del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136239.1:p.Thr1829del",
        "hgvsWellDefined": "NP_001136239.1:p.Thr1829del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827851616",
      "coordinates": [
        {
          "allele": "",
          "end": 5902,
          "referenceAllele": "CGA",
          "start": 5899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354404.2:c.5538_5540del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341333.1:p.Thr1847del",
        "hgvsWellDefined": "NP_001341333.1:p.Thr1847del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720458"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4702,
          "endIntronDirection": "-",
          "endIntronOffset": 1889,
          "referenceAllele": "CGA",
          "start": 4702,
          "startIntronDirection": "-",
          "startIntronOffset": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001384140.1:c.4368-1892_4368-1890del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371069.1:n.4368-1892_4368-1890del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722667",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644397.2:c.4368-1892_4368-1890del"
          },
          "RefSeq": {
            "hgvs": "NM_001384140.1:c.4368-1892_4368-1890del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495195.1:n.4368-1892_4368-1890del"
          },
          "RefSeq": {
            "hgvs": "NP_001371069.1:n.4368-1892_4368-1890del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}