{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2987167885",
  "communityStandardTitle": [
    "NM_001352514.2(HLCS):c.1616_1617insCCAGCTGAGCCCACACTCACCTCC (p.Ala539_Glu540insGlnLeuSerProHisSerProPro)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "GAGGTGAGTGTGGGCTCAGCTGGG",
          "end": 36930255,
          "referenceAllele": "",
          "start": 36930255
        }
      ],
      "hgvs": [
        "NC_000021.9:g.36930255_36930256insGAGGTGAGTGTGGGCTCAGCTGGG",
        "CM000683.2:g.36930255_36930256insGAGGTGAGTGTGGGCTCAGCTGGG"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "GAGGTGAGTGTGGGCTCAGCTGGG",
          "end": 38302555,
          "referenceAllele": "",
          "start": 38302555
        }
      ],
      "hgvs": [
        "NC_000021.8:g.38302555_38302556insGAGGTGAGTGTGGGCTCAGCTGGG",
        "CM000683.1:g.38302555_38302556insGAGGTGAGTGTGGGCTCAGCTGGG"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "GAGGTGAGTGTGGGCTCAGCTGGG",
          "end": 37224425,
          "referenceAllele": "",
          "start": 37224425
        }
      ],
      "hgvs": [
        "NC_000021.7:g.37224425_37224426insGAGGTGAGTGTGGGCTCAGCTGGG"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 64982,
          "referenceAllele": "",
          "start": 64982
        }
      ],
      "hgvs": [
        "NG_016193.1:g.64982_64983insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002999"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 65140,
          "referenceAllele": "",
          "start": 65140
        }
      ],
      "hgvs": [
        "NG_016193.2:g.65140_65141insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616215"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1647,
          "referenceAllele": "",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000674895.3:c.1616_1617insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502087.2:p.Ala539_Glu540insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "ENSP00000502087.2:p.Ala539_Glu540insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826898",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674895.3:c.1616_1617insCCAGCTGAGCCCACACTCACCTCC"
          },
          "RefSeq": {
            "hgvs": "NM_001352514.2:c.1616_1617insCCAGCTGAGCCCACACTCACCTCC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502087.2:p.Ala539_Glu540insGlnLeuSerProHisSerProPro"
          },
          "RefSeq": {
            "hgvs": "NP_001339443.1:p.Ala539_Glu540insGlnLeuSerProHisSerProPro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1647,
          "referenceAllele": "",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000674895.2:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502087.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "ENSP00000502087.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774785"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1498,
          "referenceAllele": "",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000675057.1:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501832.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "ENSP00000501832.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774931"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1570,
          "referenceAllele": "",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000675307.1:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501750.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "ENSP00000501750.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775144"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1646,
          "referenceAllele": "",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000336648.8:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338387.3:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "ENSP00000338387.3:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260338"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 2406,
          "referenceAllele": "",
          "start": 2406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000399120.5:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382071.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "ENSP00000382071.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278551"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 163,
          "referenceAllele": "",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000482273.1:n.163_164insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322012"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1748,
          "referenceAllele": "",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000612277.4:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479939.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "ENSP00000479939.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401237"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1655,
          "referenceAllele": "",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_000411.6:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_000402.3:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "NP_000402.3:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006473"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 2589,
          "referenceAllele": "",
          "start": 2589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242784.1:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229713.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "NP_001229713.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018238"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1748,
          "referenceAllele": "",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242785.1:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229714.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "NP_001229714.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018239"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1617,
          "referenceAllele": "",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260953.2:c.1616_1617insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261010.1:p.Ala539_Glu540insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "XP_005261010.1:p.Ala539_Glu540insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062989"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1617,
          "referenceAllele": "",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260954.1:c.1616_1617insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261011.1:p.Ala539_Glu540insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "XP_005261011.1:p.Ala539_Glu540insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062990"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1488,
          "referenceAllele": "",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260955.2:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261012.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "XP_005261012.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062991"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1664,
          "referenceAllele": "",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260956.2:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261013.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "XP_005261013.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062992"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1602,
          "referenceAllele": "",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_006723994.1:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724057.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "XP_006724057.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075310"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1780,
          "referenceAllele": "",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_006723995.1:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724058.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "XP_006724058.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075311"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1635,
          "referenceAllele": "",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529538.1:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527840.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "XP_011527840.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096607"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1632,
          "referenceAllele": "",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529539.1:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527841.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "XP_011527841.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096608"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1617,
          "referenceAllele": "",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529540.1:c.1616_1617insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527842.1:p.Ala539_Glu540insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "XP_011527842.1:p.Ala539_Glu540insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096609"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1467,
          "referenceAllele": "",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529541.1:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527843.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "XP_011527843.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096610"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1617,
          "referenceAllele": "",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529542.1:c.1616_1617insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527844.1:p.Ala539_Glu540insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "XP_011527844.1:p.Ala539_Glu540insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096611"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1804,
          "referenceAllele": "",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_000411.7:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_000402.3:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "NP_000402.3:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510791"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 2623,
          "referenceAllele": "",
          "start": 2623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242784.2:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229713.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "NP_001229713.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511912"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1778,
          "referenceAllele": "",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242785.2:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229714.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "NP_001229714.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511913"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1668,
          "referenceAllele": "",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352514.1:c.1616_1617insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339443.1:p.Ala539_Glu540insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "NP_001339443.1:p.Ala539_Glu540insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520953"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1658,
          "referenceAllele": "",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352515.1:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339444.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "NP_001339444.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520954"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1678,
          "referenceAllele": "",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352516.1:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339445.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "NP_001339445.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520955"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1632,
          "referenceAllele": "",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352517.1:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339446.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "NP_001339446.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520956"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1491,
          "referenceAllele": "",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352518.1:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339447.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "NP_001339447.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520957"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1658,
          "referenceAllele": "",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NR_148020.1:n.1658_1659insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530994"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1632,
          "referenceAllele": "",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NR_148021.1:n.1632_1633insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530995"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1641,
          "referenceAllele": "",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529539.3:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527841.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "XP_011527841.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549542"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1617,
          "referenceAllele": "",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529540.2:c.1616_1617insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527842.1:p.Ala539_Glu540insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "XP_011527842.1:p.Ala539_Glu540insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549543"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1438,
          "referenceAllele": "",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_017028330.1:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883819.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "XP_016883819.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578098"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1356,
          "referenceAllele": "",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_024452065.1:c.1004_1005insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307833.1:p.Ala335_Glu336insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "XP_024307833.1:p.Ala335_Glu336insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585569"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1421,
          "referenceAllele": "",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_024452066.1:c.1004_1005insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307834.1:p.Ala335_Glu336insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "XP_024307834.1:p.Ala335_Glu336insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585570"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1617,
          "referenceAllele": "",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754835.1:n.1617_1618insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600833"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1617,
          "referenceAllele": "",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754836.1:n.1617_1618insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600834"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1617,
          "referenceAllele": "",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754837.2:n.1617_1618insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600835"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1617,
          "referenceAllele": "",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754840.1:n.1617_1618insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600836"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1621,
          "referenceAllele": "",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_000411.8:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_000402.3:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "NP_000402.3:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674833"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 2602,
          "referenceAllele": "",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242784.3:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229713.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "NP_001229713.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680119"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1647,
          "referenceAllele": "",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352514.2:c.1616_1617insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339443.1:p.Ala539_Glu540insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "NP_001339443.1:p.Ala539_Glu540insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674895.3:c.1616_1617insCCAGCTGAGCCCACACTCACCTCC"
          },
          "RefSeq": {
            "hgvs": "NM_001352514.2:c.1616_1617insCCAGCTGAGCCCACACTCACCTCC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502087.2:p.Ala539_Glu540insGlnLeuSerProHisSerProPro"
          },
          "RefSeq": {
            "hgvs": "NP_001339443.1:p.Ala539_Glu540insGlnLeuSerProHisSerProPro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1475,
          "referenceAllele": "",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352515.2:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339444.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "NP_001339444.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689293"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1678,
          "referenceAllele": "",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352516.2:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339445.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "NP_001339445.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689294"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1475,
          "referenceAllele": "",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NR_148020.2:n.1475_1476insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704672"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGCTGAGCCCACACTCACCTCC",
          "end": 1491,
          "referenceAllele": "",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352518.2:c.1175_1176insCCAGCTGAGCCCACACTCACCTCC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339447.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro",
        "hgvsWellDefined": "NP_001339447.1:p.Ala392_Glu393insGlnLeuSerProHisSerProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720071"
    }
  ],
  "type": "nucleotide"
}