{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340178",
  "communityStandardTitle": [
    "NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19168[alleleid]",
        "alleleId": 19168,
        "preferredName": "NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4129",
        "RCV": [
          "RCV000004345",
          "RCV001851643",
          "RCV003488323"
        ],
        "variationId": 4129
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-26860623-T-TCTCCTTCCTGCCATCTGGACAAGC",
        "id": "22-26860623-T-TCTCCTTCCTGCCATCTGGACAAGC",
        "variant": "22:26860623 T / TCTCCTTCCTGCCATCTGGACAAGC"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.26860624_26860647dup24?assembly=hg19",
        "id": "chr22:g.26860624_26860647dup24"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.26860626_26860627insCTTCCTGCCATCTGGACAAGCCTC?assembly=hg19",
        "id": "chr22:g.26860626_26860627insCTTCCTGCCATCTGGACAAGCCTC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.26860623_26860624insCTCCTTCCTGCCATCTGGACAAGC?assembly=hg19",
        "id": "chr22:g.26860623_26860624insCTCCTTCCTGCCATCTGGACAAGC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.26464658_26464681dup24?assembly=hg38",
        "id": "chr22:g.26464658_26464681dup24"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.26464657_26464658insCTCCTTCCTGCCATCTGGACAAGC?assembly=hg38",
        "id": "chr22:g.26464657_26464658insCTCCTTCCTGCCATCTGGACAAGC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/281865164",
        "rs": 281865164
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-26860623-T-TCTCCTTCCTGCCATCTGGACAAGC?dataset=gnomad_r2_1",
        "id": "22-26860623-T-TCTCCTTCCTGCCATCTGGACAAGC",
        "variant": "22:26860623 T / TCTCCTTCCTGCCATCTGGACAAGC"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-26464657-T-TCTCCTTCCTGCCATCTGGACAAGC?dataset=gnomad_r4",
        "id": "22-26464657-T-TCTCCTTCCTGCCATCTGGACAAGC",
        "variant": "22:26464657 T / TCTCCTTCCTGCCATCTGGACAAGC"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "CTCCTTCCTGCCATCTGGACAAGC",
          "end": 26464681,
          "referenceAllele": "",
          "start": 26464681
        }
      ],
      "hgvs": [
        "NC_000022.11:g.26464658_26464681dup",
        "CM000684.2:g.26464658_26464681dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "CTCCTTCCTGCCATCTGGACAAGC",
          "end": 26860647,
          "referenceAllele": "",
          "start": 26860647
        }
      ],
      "hgvs": [
        "NC_000022.10:g.26860624_26860647dup",
        "CM000684.1:g.26860624_26860647dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "CTCCTTCCTGCCATCTGGACAAGC",
          "end": 25190647,
          "referenceAllele": "",
          "start": 25190647
        }
      ],
      "hgvs": [
        "NC_000022.9:g.25190624_25190647dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 24206,
          "referenceAllele": "",
          "start": 24206
        }
      ],
      "hgvs": [
        "NG_009763.2:g.24183_24206dup",
        "LRG_590:g.24183_24206dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001629"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1523,
          "referenceAllele": "",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000422379.3:c.1003_1026dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415081.3:p.Glu342_Asn343insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "ENSP00000415081.3:p.Ala335_Glu342dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904782"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1693,
          "referenceAllele": "",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000473782.2:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514223.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "ENSP00000514223.1:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905210"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1438,
          "referenceAllele": "",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000483631.2:c.154_177dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514228.1:p.Glu59_Asn60insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "ENSP00000514228.1:p.Ala52_Glu59dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905307"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1597,
          "referenceAllele": "",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000491142.2:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514221.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "ENSP00000514221.1:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905383"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 3898,
          "referenceAllele": "",
          "start": 3898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699226.1:n.3875_3898dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910166"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1539,
          "referenceAllele": "",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699227.1:c.*293_*316dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514220.1:n.*293_*316dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910167"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1522,
          "referenceAllele": "",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699228.1:n.1499_1522dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910168"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 389,
          "referenceAllele": "",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699229.1:n.366_389dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910169"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1695,
          "referenceAllele": "",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699230.1:n.1672_1695dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910170"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 3984,
          "referenceAllele": "",
          "start": 3984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699231.1:n.3961_3984dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910171"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 2328,
          "referenceAllele": "",
          "start": 2328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699232.1:n.2305_2328dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910172"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 843,
          "referenceAllele": "",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699233.1:n.820_843dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910173"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1452,
          "referenceAllele": "",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699234.1:c.*293_*316dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514222.1:n.*293_*316dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910174"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1418,
          "referenceAllele": "",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699235.1:c.154_177dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514224.1:p.Glu59_Asn60insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "ENSP00000514224.1:p.Ala52_Glu59dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910175"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1485,
          "referenceAllele": "",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699236.1:c.*138_*161dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514225.1:n.*138_*161dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910176"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1470,
          "referenceAllele": "",
          "start": 1470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699237.1:c.*138_*161dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514226.1:n.*138_*161dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910177"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1648,
          "referenceAllele": "",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699238.1:c.*492_*515dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514227.1:n.*492_*515dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910178"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 3726,
          "referenceAllele": "",
          "start": 3726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699239.1:n.3703_3726dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910179"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1706,
          "referenceAllele": "",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699240.1:c.*606_*629dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514229.1:n.*606_*629dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910180"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 2315,
          "referenceAllele": "",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699241.1:c.*1141_*1164dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514230.1:n.*1141_*1164dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910181"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1462,
          "referenceAllele": "",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699242.1:c.859_882dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514231.1:p.Glu294_Asn295insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "ENSP00000514231.1:p.Ala287_Glu294dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910182"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1580,
          "referenceAllele": "",
          "start": 1580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699243.1:c.*293_*316dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514232.1:n.*293_*316dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910183"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1574,
          "referenceAllele": "",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699244.1:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514233.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "ENSP00000514233.1:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910184"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1683,
          "referenceAllele": "",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699246.1:c.*467_*490dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514234.1:n.*467_*490dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910186"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1210,
          "endIntronDirection": "+",
          "endIntronOffset": 3893,
          "referenceAllele": "",
          "start": 1210,
          "startIntronDirection": "+",
          "startIntronOffset": 3893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699247.1:c.669+3870_669+3893dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514235.1:n.669+3870_669+3893dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910187"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 3042,
          "referenceAllele": "",
          "start": 3042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699248.1:n.3019_3042dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910188"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1538,
          "referenceAllele": "",
          "start": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699249.1:c.*293_*316dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514236.1:n.*293_*316dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910189"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1570,
          "referenceAllele": "",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699250.1:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514237.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "ENSP00000514237.1:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910190"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1522,
          "referenceAllele": "",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699251.1:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514238.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "ENSP00000514238.1:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910191"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1522,
          "referenceAllele": "",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000699252.1:n.1499_1522dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910192"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1560,
          "referenceAllele": "",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000398145.7:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381213.2:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "ENSP00000381213.2:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753727",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398145.7:c.949_972dup"
          },
          "RefSeq": {
            "hgvs": "NM_022081.6:c.949_972dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381213.2:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu"
          },
          "RefSeq": {
            "hgvs": "NP_071364.4:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1481,
          "referenceAllele": "",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000336873.9:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338457.5:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "ENSP00000338457.5:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260384"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1589,
          "referenceAllele": "",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000398145.6:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381213.2:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "ENSP00000381213.2:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278154"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1257,
          "referenceAllele": "",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000402105.7:c.934_957dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384185.3:p.Glu319_Asn320insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "ENSP00000384185.3:p.Ala312_Glu319dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279411"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1523,
          "referenceAllele": "",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000422379.2:c.1003_1026dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415081.2:p.Glu342_Asn343insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "ENSP00000415081.2:p.Ala335_Glu342dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287249"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1187,
          "referenceAllele": "",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000429411.5:c.*521_*544dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399705.1:n.*521_*544dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290654"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1631,
          "referenceAllele": "",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000439453.5:c.*467_*490dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406764.1:n.*467_*490dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295428"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1972,
          "referenceAllele": "",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000464362.5:c.*1280_*1303dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430291.1:n.*1280_*1303dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308212"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 3831,
          "referenceAllele": "",
          "start": 3831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000466781.5:n.3808_3831dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310055"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 404,
          "endIntronDirection": "+",
          "endIntronOffset": 3893,
          "referenceAllele": "",
          "start": 404,
          "startIntronDirection": "+",
          "startIntronOffset": 3893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000485842.5:n.404+3870_404+3893dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324780"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1738,
          "referenceAllele": "",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "ENST00000496385.5:n.1715_1738dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829964781",
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1640,
          "referenceAllele": "",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NM_022081.5:c.949_972dup",
        "LRG_590t1:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_071364.4:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "NP_071364.4:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830297296",
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1257,
          "referenceAllele": "",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NM_152841.2:c.934_957dup",
        "LRG_590t2:c.934_957dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_690054.1:p.Glu319_Asn320insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "NP_690054.1:p.Ala312_Glu319dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042170"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1658,
          "referenceAllele": "",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NR_073135.1:n.1635_1658dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052514"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1420,
          "referenceAllele": "",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NR_073136.1:n.1397_1420dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052515"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1685,
          "referenceAllele": "",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_006724353.2:c.1003_1026dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724416.1:p.Glu342_Asn343insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_006724416.1:p.Ala335_Glu342dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075485"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1590,
          "referenceAllele": "",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_006724354.2:c.1003_1026dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724417.1:p.Glu342_Asn343insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_006724417.1:p.Ala335_Glu342dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075486"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 868,
          "referenceAllele": "",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_006724360.2:c.436_459dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724423.1:p.Glu153_Asn154insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_006724423.1:p.Ala146_Glu153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075487"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1763,
          "referenceAllele": "",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530485.1:c.1081_1104dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528787.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528787.1:p.Ala361_Glu368dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097541"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1668,
          "referenceAllele": "",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530486.1:c.1081_1104dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528788.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528788.1:p.Ala361_Glu368dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097542"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1873,
          "referenceAllele": "",
          "start": 1873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530487.1:c.1081_1104dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528789.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528789.1:p.Ala361_Glu368dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097543"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1671,
          "referenceAllele": "",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530488.1:c.1081_1104dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528790.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528790.1:p.Ala361_Glu368dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097544"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1774,
          "referenceAllele": "",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530489.1:c.1081_1104dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528791.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528791.1:p.Ala361_Glu368dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097545"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1709,
          "referenceAllele": "",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530490.1:c.1027_1050dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528792.1:p.Glu350_Asn351insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528792.1:p.Ala343_Glu350dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097546"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1763,
          "referenceAllele": "",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530491.1:c.1081_1104dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528793.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528793.1:p.Ala361_Glu368dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097547"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1763,
          "referenceAllele": "",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530492.1:c.1081_1104dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528794.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528794.1:p.Ala361_Glu368dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097548"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1763,
          "referenceAllele": "",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530493.1:c.1081_1104dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528795.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528795.1:p.Ala361_Glu368dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097549"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1077,
          "referenceAllele": "",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530494.1:c.289_312dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528796.1:p.Glu104_Asn105insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528796.1:p.Ala97_Glu104dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097550"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 565,
          "referenceAllele": "",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530495.1:c.436_459dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528797.1:p.Glu153_Asn154insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528797.1:p.Ala146_Glu153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097551"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 400,
          "referenceAllele": "",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530496.1:c.289_312dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528798.1:p.Glu104_Asn105insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528798.1:p.Ala97_Glu104dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097552"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1763,
          "referenceAllele": "",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XR_937947.1:n.1740_1763dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132705"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827463808",
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1549,
          "referenceAllele": "",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NM_001349896.1:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336825.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "NP_001336825.1:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827464808",
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1768,
          "referenceAllele": "",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NM_001349898.1:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336827.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "NP_001336827.1:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519008"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827465798",
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1569,
          "referenceAllele": "",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NM_001349899.1:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336828.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "NP_001336828.1:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519009"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827466833",
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1694,
          "referenceAllele": "",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NM_001349900.1:c.1003_1026dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336829.1:p.Glu342_Asn343insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "NP_001336829.1:p.Ala335_Glu342dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827467835",
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1603,
          "referenceAllele": "",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NM_001349901.1:c.1003_1026dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336830.1:p.Glu342_Asn343insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "NP_001336830.1:p.Ala335_Glu342dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827468801",
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1549,
          "referenceAllele": "",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NM_001349902.1:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336831.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "NP_001336831.1:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827469582",
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1640,
          "referenceAllele": "",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NM_001349903.1:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336832.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "NP_001336832.1:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519013"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827470393",
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1640,
          "referenceAllele": "",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NM_001349904.1:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336833.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "NP_001336833.1:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519014"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827471391",
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1549,
          "referenceAllele": "",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NM_001349905.1:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336834.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "NP_001336834.1:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519015"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1749,
          "referenceAllele": "",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NR_146311.1:n.1726_1749dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530039"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1574,
          "referenceAllele": "",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NR_146312.1:n.1551_1574dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530040"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1594,
          "referenceAllele": "",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NR_146313.1:n.1571_1594dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530041"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1725,
          "referenceAllele": "",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NR_146314.1:n.1702_1725dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530042"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1665,
          "referenceAllele": "",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NR_146315.1:n.1642_1665dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530043"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1640,
          "referenceAllele": "",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NR_146316.1:n.1617_1640dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530044"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 868,
          "referenceAllele": "",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_006724360.3:c.436_459dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724423.1:p.Glu153_Asn154insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_006724423.1:p.Ala146_Glu153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540959"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1758,
          "referenceAllele": "",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530485.2:c.1081_1104dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528787.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528787.1:p.Ala361_Glu368dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550005"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1668,
          "referenceAllele": "",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530486.2:c.1081_1104dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528788.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528788.1:p.Ala361_Glu368dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550006"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1873,
          "referenceAllele": "",
          "start": 1873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530487.2:c.1081_1104dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528789.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528789.1:p.Ala361_Glu368dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550007"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1671,
          "referenceAllele": "",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530488.2:c.1081_1104dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528790.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528790.1:p.Ala361_Glu368dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550008"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1774,
          "referenceAllele": "",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530489.2:c.1081_1104dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528791.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528791.1:p.Ala361_Glu368dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550009"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1704,
          "referenceAllele": "",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530490.3:c.1027_1050dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528792.1:p.Glu350_Asn351insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528792.1:p.Ala343_Glu350dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550010"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1758,
          "referenceAllele": "",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530491.3:c.1081_1104dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528793.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528793.1:p.Ala361_Glu368dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550011"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1758,
          "referenceAllele": "",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530492.2:c.1081_1104dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528794.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528794.1:p.Ala361_Glu368dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550012"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1758,
          "referenceAllele": "",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530493.3:c.1081_1104dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528795.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528795.1:p.Ala361_Glu368dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550013"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1059,
          "referenceAllele": "",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530494.2:c.289_312dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528796.1:p.Glu104_Asn105insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528796.1:p.Ala97_Glu104dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550014"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 565,
          "referenceAllele": "",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530495.2:c.436_459dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528797.1:p.Glu153_Asn154insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528797.1:p.Ala146_Glu153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550015"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 400,
          "referenceAllele": "",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_011530496.2:c.289_312dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528798.1:p.Glu104_Asn105insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_011528798.1:p.Ala97_Glu104dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550016"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1704,
          "referenceAllele": "",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_017029045.2:c.1027_1050dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884534.1:p.Glu350_Asn351insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_016884534.1:p.Ala343_Glu350dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578661"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1626,
          "referenceAllele": "",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_017029046.2:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884535.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_016884535.1:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578662"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1704,
          "referenceAllele": "",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_017029047.2:c.1027_1050dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884536.1:p.Glu350_Asn351insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_016884536.1:p.Ala343_Glu350dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578663"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1789,
          "referenceAllele": "",
          "start": 1789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_017029052.2:c.541_564dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884541.1:p.Glu188_Asn189insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_016884541.1:p.Ala181_Glu188dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578664"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1153,
          "referenceAllele": "",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_017029053.1:c.526_549dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884542.1:p.Glu183_Asn184insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_016884542.1:p.Ala176_Glu183dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578665"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1802,
          "referenceAllele": "",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_017029056.2:c.154_177dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884545.1:p.Glu59_Asn60insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_016884545.1:p.Ala52_Glu59dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578666"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1760,
          "referenceAllele": "",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_017029061.2:c.154_177dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884550.1:p.Glu59_Asn60insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_016884550.1:p.Ala52_Glu59dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578667"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1535,
          "referenceAllele": "",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_017029062.2:c.154_177dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884551.1:p.Glu59_Asn60insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_016884551.1:p.Ala52_Glu59dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578668"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1672,
          "referenceAllele": "",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_017029063.2:c.154_177dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884552.1:p.Glu59_Asn60insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_016884552.1:p.Ala52_Glu59dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578669"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1444,
          "referenceAllele": "",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_017029064.2:c.154_177dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884553.1:p.Glu59_Asn60insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_016884553.1:p.Ala52_Glu59dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578670"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 3735,
          "referenceAllele": "",
          "start": 3735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_024452298.1:c.322_345dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308066.1:p.Glu115_Asn116insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_024308066.1:p.Ala108_Glu115dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585795"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 2209,
          "referenceAllele": "",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_024452299.1:c.154_177dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308067.1:p.Glu59_Asn60insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_024308067.1:p.Ala52_Glu59dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585796"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1474,
          "referenceAllele": "",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XM_024452300.1:c.154_177dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308068.1:p.Glu59_Asn60insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "XP_024308068.1:p.Ala52_Glu59dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585797"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1680,
          "referenceAllele": "",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XR_001755361.2:n.1657_1680dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601115"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1536,
          "referenceAllele": "",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XR_001755364.1:n.1513_1536dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601116"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 2209,
          "referenceAllele": "",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XR_001755366.2:n.2186_2209dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601117"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1758,
          "referenceAllele": "",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XR_002958721.1:n.1735_1758dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604846"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1758,
          "referenceAllele": "",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "XR_937947.2:n.1735_1758dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827464808",
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1688,
          "referenceAllele": "",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NM_001349898.2:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336827.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "NP_001336827.1:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827465798",
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1489,
          "referenceAllele": "",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NM_001349899.2:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336828.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "NP_001336828.1:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827466833",
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1614,
          "referenceAllele": "",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NM_001349900.2:c.1003_1026dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336829.1:p.Glu342_Asn343insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "NP_001336829.1:p.Ala335_Glu342dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688127"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827469582",
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1560,
          "referenceAllele": "",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NM_001349903.2:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336832.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "NP_001336832.1:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827470393",
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1560,
          "referenceAllele": "",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NM_001349904.2:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336833.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "NP_001336833.1:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688129"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1227,
          "referenceAllele": "",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NR_073136.2:n.1204_1227dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702696"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1669,
          "referenceAllele": "",
          "start": 1669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NR_146311.2:n.1646_1669dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704341"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1514,
          "referenceAllele": "",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NR_146313.2:n.1491_1514dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704342"
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1585,
          "referenceAllele": "",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NR_146315.2:n.1562_1585dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704343"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829964781",
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1560,
          "referenceAllele": "",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NM_022081.6:c.949_972dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_071364.4:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu",
        "hgvsWellDefined": "NP_071364.4:p.Ala317_Glu324dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728565",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398145.7:c.949_972dup"
          },
          "RefSeq": {
            "hgvs": "NM_022081.6:c.949_972dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381213.2:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu"
          },
          "RefSeq": {
            "hgvs": "NP_071364.4:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GCTTGTCCAGATGGCAGGAAGGAG",
          "end": 1560,
          "referenceAllele": "",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NR_146316.2:n.1537_1560dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731249"
    }
  ],
  "type": "nucleotide"
}