{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3271833331",
  "communityStandardTitle": [
    "NM_016341.4(PLCE1):c.5184del (p.Arg1729AspfsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "",
          "end": 94298395,
          "referenceAllele": "T",
          "start": 94298394
        }
      ],
      "hgvs": [
        "NC_000010.11:g.94298395del",
        "CM000672.2:g.94298395del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "",
          "end": 96058152,
          "referenceAllele": "T",
          "start": 96058151
        }
      ],
      "hgvs": [
        "NC_000010.10:g.96058152del",
        "CM000672.1:g.96058152del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "",
          "end": 96048142,
          "referenceAllele": "T",
          "start": 96048141
        }
      ],
      "hgvs": [
        "NC_000010.9:g.96048142del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 309407,
          "referenceAllele": "T",
          "start": 309406
        }
      ],
      "hgvs": [
        "NG_015799.1:g.309407del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002831"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4260,
          "referenceAllele": "T",
          "start": 4259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371375.2:c.4260del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360426.1:p.Arg1421AspfsTer?",
        "hgvsWellDefined": "ENSP00000360426.1:p.[Arg1421_Ser1429delinsAspArgProGlyArgAsnLeuLeu;Asn1432delinsSerThrGln;Thr1434_Thr1435delinsArgPro;Ser1436_Leu1437insVal;Ala1439_Thr1443delinsLeuGluLeu;Lys1445_His1448delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824257"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5471,
          "referenceAllele": "T",
          "start": 5470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000685253.1:c.*1727del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509405.1:n.*1727del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829968"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1919,
          "referenceAllele": "T",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000685889.1:n.1919del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830298"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 603,
          "referenceAllele": "T",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000686807.1:n.603del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830755"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5661,
          "referenceAllele": "T",
          "start": 5660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000686954.1:c.*468del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508416.1:n.*468del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830832"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4212,
          "referenceAllele": "T",
          "start": 4211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000688810.1:c.4212del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509140.1:p.Arg1405AspfsTer?",
        "hgvsWellDefined": "ENSP00000509140.1:p.[Arg1405_Ser1413delinsAspArgProGlyArgAsnLeuLeu;Asn1416delinsSerThrGln;Thr1418_Thr1419delinsArgPro;Ser1420_Leu1421insVal;Ala1423_Thr1427delinsLeuGluLeu;Lys1429_His1432delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831832"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 9392,
          "referenceAllele": "T",
          "start": 9391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000689233.1:n.9392del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832066"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2857,
          "referenceAllele": "T",
          "start": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000690340.1:n.2857del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832652"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5382,
          "referenceAllele": "T",
          "start": 5381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000692286.1:c.5052del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509490.1:p.Arg1685AspfsTer?",
        "hgvsWellDefined": "ENSP00000509490.1:p.[Arg1685_Ser1693delinsAspArgProGlyArgAsnLeuLeu;Asn1696delinsSerThrGln;Thr1698_Thr1699delinsArgPro;Ser1700_Leu1701insVal;Ala1703_Thr1707delinsLeuGluLeu;Lys1709_His1712delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833642"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5725,
          "referenceAllele": "T",
          "start": 5724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000692396.1:c.5136del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508605.1:p.Arg1713AspfsTer?",
        "hgvsWellDefined": "ENSP00000508605.1:p.[Arg1713_Ser1721delinsAspArgProGlyArgAsnLeuLeu;Asn1724delinsSerThrGln;Thr1726_Thr1727delinsArgPro;Ser1728_Leu1729insVal;Ala1731_Thr1735delinsLeuGluLeu;Lys1737_His1740delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833700"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5876,
          "referenceAllele": "T",
          "start": 5875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371380.8:c.5184del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360431.2:p.Arg1729AspfsTer?",
        "hgvsWellDefined": "ENSP00000360431.2:p.[Arg1729_Ser1737delinsAspArgProGlyArgAsnLeuLeu;Asn1740delinsSerThrGln;Thr1742_Thr1743delinsArgPro;Ser1744_Leu1745insVal;Ala1747_Thr1751delinsLeuGluLeu;Lys1753_His1756delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371380.8:c.5184del"
          },
          "RefSeq": {
            "hgvs": "NM_016341.4:c.5184del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360431.2:p.Arg1729AspfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_057425.3:p.Arg1729AspfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4213,
          "referenceAllele": "T",
          "start": 4212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371385.8:c.4158del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360438.4:p.Arg1387AspfsTer?",
        "hgvsWellDefined": "ENSP00000360438.4:p.[Arg1387_Ser1395delinsAspArgProGlyArgAsnLeuLeu;Asn1398delinsSerThrGln;Thr1400_Thr1401delinsArgPro;Ser1402_Leu1403insVal;Ala1405_Thr1409delinsLeuGluLeu;Lys1411_His1414delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750781"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3739,
          "referenceAllele": "T",
          "start": 3738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000674738.1:c.3739del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774660"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3300,
          "referenceAllele": "T",
          "start": 3299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000674827.1:c.3300del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502523.1:p.Arg1101AspfsTer?",
        "hgvsWellDefined": "ENSP00000502523.1:p.[Arg1101_Ser1109delinsAspArgProGlyArgAsnLeuLeu;Asn1112delinsSerThrGln;Thr1114_Thr1115delinsArgPro;Ser1116_Leu1117insVal;Ala1119_Thr1123delinsLeuGluLeu;Lys1125_His1128delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774733"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4260,
          "referenceAllele": "T",
          "start": 4259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675218.1:c.4260del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501910.1:p.Arg1421AspfsTer?",
        "hgvsWellDefined": "ENSP00000501910.1:p.[Arg1421_Ser1429delinsAspArgProGlyArgAsnLeuLeu;Asn1432delinsSerThrGln;Thr1434_Thr1435delinsArgPro;Ser1436_Leu1437insVal;Ala1439_Thr1443delinsLeuGluLeu;Lys1445_His1448delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775069"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5417,
          "referenceAllele": "T",
          "start": 5416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675487.1:c.*1117del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502340.1:n.*1117del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775302"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4453,
          "referenceAllele": "T",
          "start": 4452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675718.1:c.4453del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775499"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4084,
          "referenceAllele": "T",
          "start": 4083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000676102.1:c.4029del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502811.1:p.Arg1344AspfsTer?",
        "hgvsWellDefined": "ENSP00000502811.1:p.[Arg1344_Ser1352delinsAspArgProGlyArgAsnLeuLeu;Asn1355delinsSerThrGln;Thr1357_Thr1358delinsArgPro;Ser1359_Leu1360insVal;Ala1362_Thr1366delinsLeuGluLeu;Lys1368_Tyr1370delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775832"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5818,
          "referenceAllele": "T",
          "start": 5817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000260766.7:c.5184del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260766.3:p.Arg1729AspfsTer?",
        "hgvsWellDefined": "ENSP00000260766.3:p.[Arg1729_Ser1737delinsAspArgProGlyArgAsnLeuLeu;Asn1740delinsSerThrGln;Thr1742_Thr1743delinsArgPro;Ser1744_Leu1745insVal;Ala1747_Thr1751delinsLeuGluLeu;Lys1753_His1756delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250633"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4260,
          "referenceAllele": "T",
          "start": 4259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371375.1:c.4260del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360426.1:p.Arg1421AspfsTer?",
        "hgvsWellDefined": "ENSP00000360426.1:p.[Arg1421_Ser1429delinsAspArgProGlyArgAsnLeuLeu;Asn1432delinsSerThrGln;Thr1434_Thr1435delinsArgPro;Ser1436_Leu1437insVal;Ala1439_Thr1443delinsLeuGluLeu;Lys1445_His1448delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268554"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5419,
          "referenceAllele": "T",
          "start": 5418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371380.7:c.5184del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360431.2:p.Arg1729AspfsTer?",
        "hgvsWellDefined": "ENSP00000360431.2:p.[Arg1729_Ser1737delinsAspArgProGlyArgAsnLeuLeu;Asn1740delinsSerThrGln;Thr1742_Thr1743delinsArgPro;Ser1744_Leu1745insVal;Ala1747_Thr1751delinsLeuGluLeu;Lys1753_His1756delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268558"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4329,
          "referenceAllele": "T",
          "start": 4328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371385.7:c.4260del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360438.3:p.Arg1421AspfsTer?",
        "hgvsWellDefined": "ENSP00000360438.3:p.[Arg1421_Ser1429delinsAspArgProGlyArgAsnLeuLeu;Asn1432delinsSerThrGln;Thr1434_Thr1435delinsArgPro;Ser1436_Leu1437insVal;Ala1439_Thr1443delinsLeuGluLeu;Lys1445_His1448delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268561"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4329,
          "referenceAllele": "T",
          "start": 4328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001165979.2:c.4260del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159451.1:p.Arg1421AspfsTer?",
        "hgvsWellDefined": "NP_001159451.1:p.[Arg1421_Ser1429delinsAspArgProGlyArgAsnLeuLeu;Asn1432delinsSerThrGln;Thr1434_Thr1435delinsArgPro;Ser1436_Leu1437insVal;Ala1439_Thr1443delinsLeuGluLeu;Lys1445_His1448delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014755"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5770,
          "referenceAllele": "T",
          "start": 5769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001288989.1:c.5136del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275918.1:p.Arg1713AspfsTer?",
        "hgvsWellDefined": "NP_001275918.1:p.[Arg1713_Ser1721delinsAspArgProGlyArgAsnLeuLeu;Asn1724delinsSerThrGln;Thr1726_Thr1727delinsArgPro;Ser1728_Leu1729insVal;Ala1731_Thr1735delinsLeuGluLeu;Lys1737_His1740delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023698"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5818,
          "referenceAllele": "T",
          "start": 5817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_016341.3:c.5184del"
      ],
      "proteinEffect": {
        "hgvs": "NP_057425.3:p.Arg1729AspfsTer?",
        "hgvsWellDefined": "NP_057425.3:p.[Arg1729_Ser1737delinsAspArgProGlyArgAsnLeuLeu;Asn1740delinsSerThrGln;Thr1742_Thr1743delinsArgPro;Ser1744_Leu1745insVal;Ala1747_Thr1751delinsLeuGluLeu;Lys1753_His1756delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034631"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5810,
          "referenceAllele": "T",
          "start": 5809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717885.2:c.5226del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717948.1:p.Arg1743AspfsTer?",
        "hgvsWellDefined": "XP_006717948.1:p.[Arg1743_Ser1751delinsAspArgProGlyArgAsnLeuLeu;Asn1754delinsSerThrGln;Thr1756_Thr1757delinsArgPro;Ser1758_Leu1759insVal;Ala1761_Thr1765delinsLeuGluLeu;Lys1767_His1770delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072360"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5810,
          "referenceAllele": "T",
          "start": 5809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717886.2:c.5226del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717949.1:p.Arg1743AspfsTer?",
        "hgvsWellDefined": "XP_006717949.1:p.[Arg1743_Ser1751delinsAspArgProGlyArgAsnLeuLeu;Asn1754delinsSerThrGln;Thr1756_Thr1757delinsArgPro;Ser1758_Leu1759insVal;Ala1761_Thr1765delinsLeuGluLeu;Lys1767_His1770delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072361"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5807,
          "referenceAllele": "T",
          "start": 5806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717888.2:c.5223del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717951.1:p.Arg1742AspfsTer?",
        "hgvsWellDefined": "XP_006717951.1:p.[Arg1742_Ser1750delinsAspArgProGlyArgAsnLeuLeu;Asn1753delinsSerThrGln;Thr1755_Thr1756delinsArgPro;Ser1757_Leu1758insVal;Ala1760_Thr1764delinsLeuGluLeu;Lys1766_His1769delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072362"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5762,
          "referenceAllele": "T",
          "start": 5761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717889.2:c.5178del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717952.1:p.Arg1727AspfsTer?",
        "hgvsWellDefined": "XP_006717952.1:p.[Arg1727_Ser1735delinsAspArgProGlyArgAsnLeuLeu;Asn1738delinsSerThrGln;Thr1740_Thr1741delinsArgPro;Ser1742_Leu1743insVal;Ala1745_Thr1749delinsLeuGluLeu;Lys1751_His1754delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072363"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4324,
          "referenceAllele": "T",
          "start": 4323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717890.1:c.4302del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717953.1:p.Arg1435AspfsTer?",
        "hgvsWellDefined": "XP_006717953.1:p.[Arg1435_Ser1443delinsAspArgProGlyArgAsnLeuLeu;Asn1446delinsSerThrGln;Thr1448_Thr1449delinsArgPro;Ser1450_Leu1451insVal;Ala1453_Thr1457delinsLeuGluLeu;Lys1459_His1462delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072364"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5609,
          "referenceAllele": "T",
          "start": 5608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539849.1:c.5226del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538151.1:p.Arg1743AspfsTer?",
        "hgvsWellDefined": "XP_011538151.1:p.[Arg1743_Ser1751delinsAspArgProGlyArgAsnLeuLeu;Asn1754delinsSerThrGln;Thr1756_Thr1757delinsArgPro;Ser1758_Leu1759insVal;Ala1761_Thr1765delinsLeuGluLeu;Lys1767_His1770delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106799"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4106,
          "referenceAllele": "T",
          "start": 4105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539850.1:c.4071del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538152.1:p.Arg1358AspfsTer?",
        "hgvsWellDefined": "XP_011538152.1:p.[Arg1358_Ser1366delinsAspArgProGlyArgAsnLeuLeu;Asn1369delinsSerThrGln;Thr1371_Thr1372delinsArgPro;Ser1373_Leu1374insVal;Ala1376_Thr1380delinsLeuGluLeu;Lys1382_His1385delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106800"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5808,
          "referenceAllele": "T",
          "start": 5807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717885.4:c.5226del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717948.1:p.Arg1743AspfsTer?",
        "hgvsWellDefined": "XP_006717948.1:p.[Arg1743_Ser1751delinsAspArgProGlyArgAsnLeuLeu;Asn1754delinsSerThrGln;Thr1756_Thr1757delinsArgPro;Ser1758_Leu1759insVal;Ala1761_Thr1765delinsLeuGluLeu;Lys1767_His1770delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539503"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5805,
          "referenceAllele": "T",
          "start": 5804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717888.4:c.5223del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717951.1:p.Arg1742AspfsTer?",
        "hgvsWellDefined": "XP_006717951.1:p.[Arg1742_Ser1750delinsAspArgProGlyArgAsnLeuLeu;Asn1753delinsSerThrGln;Thr1755_Thr1756delinsArgPro;Ser1757_Leu1758insVal;Ala1760_Thr1764delinsLeuGluLeu;Lys1766_His1769delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539504"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5760,
          "referenceAllele": "T",
          "start": 5759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717889.4:c.5178del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717952.1:p.Arg1727AspfsTer?",
        "hgvsWellDefined": "XP_006717952.1:p.[Arg1727_Ser1735delinsAspArgProGlyArgAsnLeuLeu;Asn1738delinsSerThrGln;Thr1740_Thr1741delinsArgPro;Ser1742_Leu1743insVal;Ala1745_Thr1749delinsLeuGluLeu;Lys1751_His1754delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539505"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4324,
          "referenceAllele": "T",
          "start": 4323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717890.3:c.4302del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717953.1:p.Arg1435AspfsTer?",
        "hgvsWellDefined": "XP_006717953.1:p.[Arg1435_Ser1443delinsAspArgProGlyArgAsnLeuLeu;Asn1446delinsSerThrGln;Thr1448_Thr1449delinsArgPro;Ser1450_Leu1451insVal;Ala1453_Thr1457delinsLeuGluLeu;Lys1459_His1462delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539506"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6965,
          "referenceAllele": "T",
          "start": 6964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539849.3:c.5226del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538151.1:p.Arg1743AspfsTer?",
        "hgvsWellDefined": "XP_011538151.1:p.[Arg1743_Ser1751delinsAspArgProGlyArgAsnLeuLeu;Asn1754delinsSerThrGln;Thr1756_Thr1757delinsArgPro;Ser1758_Leu1759insVal;Ala1761_Thr1765delinsLeuGluLeu;Lys1767_His1770delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553823"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5453,
          "referenceAllele": "T",
          "start": 5452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539850.3:c.4071del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538152.1:p.Arg1358AspfsTer?",
        "hgvsWellDefined": "XP_011538152.1:p.[Arg1358_Ser1366delinsAspArgProGlyArgAsnLeuLeu;Asn1369delinsSerThrGln;Thr1371_Thr1372delinsArgPro;Ser1373_Leu1374insVal;Ala1376_Thr1380delinsLeuGluLeu;Lys1382_His1385delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553824"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5855,
          "referenceAllele": "T",
          "start": 5854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016310.2:c.5226del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871799.1:p.Arg1743AspfsTer?",
        "hgvsWellDefined": "XP_016871799.1:p.[Arg1743_Ser1751delinsAspArgProGlyArgAsnLeuLeu;Asn1754delinsSerThrGln;Thr1756_Thr1757delinsArgPro;Ser1758_Leu1759insVal;Ala1761_Thr1765delinsLeuGluLeu;Lys1767_His1770delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568781"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5808,
          "referenceAllele": "T",
          "start": 5807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016311.2:c.5226del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871800.1:p.Arg1743AspfsTer?",
        "hgvsWellDefined": "XP_016871800.1:p.[Arg1743_Ser1751delinsAspArgProGlyArgAsnLeuLeu;Asn1754delinsSerThrGln;Thr1756_Thr1757delinsArgPro;Ser1758_Leu1759insVal;Ala1761_Thr1765delinsLeuGluLeu;Lys1767_His1770delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568782"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4234,
          "referenceAllele": "T",
          "start": 4233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016312.2:c.4212del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871801.1:p.Arg1405AspfsTer?",
        "hgvsWellDefined": "XP_016871801.1:p.[Arg1405_Ser1413delinsAspArgProGlyArgAsnLeuLeu;Asn1416delinsSerThrGln;Thr1418_Thr1419delinsArgPro;Ser1420_Leu1421insVal;Ala1423_Thr1427delinsLeuGluLeu;Lys1429_His1432delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568783"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5828,
          "referenceAllele": "T",
          "start": 5827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001288989.2:c.5136del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275918.1:p.Arg1713AspfsTer?",
        "hgvsWellDefined": "NP_001275918.1:p.[Arg1713_Ser1721delinsAspArgProGlyArgAsnLeuLeu;Asn1724delinsSerThrGln;Thr1726_Thr1727delinsArgPro;Ser1728_Leu1729insVal;Ala1731_Thr1735delinsLeuGluLeu;Lys1737_His1740delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682560"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5876,
          "referenceAllele": "T",
          "start": 5875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_016341.4:c.5184del"
      ],
      "proteinEffect": {
        "hgvs": "NP_057425.3:p.Arg1729AspfsTer?",
        "hgvsWellDefined": "NP_057425.3:p.[Arg1729_Ser1737delinsAspArgProGlyArgAsnLeuLeu;Asn1740delinsSerThrGln;Thr1742_Thr1743delinsArgPro;Ser1744_Leu1745insVal;Ala1747_Thr1751delinsLeuGluLeu;Lys1753_His1756delinsAsnValIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371380.8:c.5184del"
          },
          "RefSeq": {
            "hgvs": "NM_016341.4:c.5184del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360431.2:p.Arg1729AspfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_057425.3:p.Arg1729AspfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}