{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA325516",
  "communityStandardTitle": [
    "NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427IlefsTer5)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18928[alleleid]",
        "alleleId": 18928,
        "preferredName": "NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3889",
        "RCV": [
          "RCV000004093",
          "RCV000224443",
          "RCV000623223",
          "RCV001250227",
          "RCV001252517"
        ],
        "variationId": 3889
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-72638920-G-GGATA",
        "id": "15-72638920-G-GGATA",
        "variant": "15:72638920 G / GGATA"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.72638921_72638924dup?assembly=hg19",
        "id": "chr15:g.72638921_72638924dup"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.72638921_72638924dupGATA?assembly=hg19",
        "id": "chr15:g.72638921_72638924dupGATA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.72638920_72638921insGATA?assembly=hg19",
        "id": "chr15:g.72638920_72638921insGATA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.72346580_72346583dupGATA?assembly=hg38",
        "id": "chr15:g.72346580_72346583dupGATA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.72346579_72346580insGATA?assembly=hg38",
        "id": "chr15:g.72346579_72346580insGATA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906309",
        "rs": 387906309
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-72638920-G-GGATA?dataset=gnomad_r2_1",
        "id": "15-72638920-G-GGATA",
        "variant": "15:72638920 G / GGATA"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-72346579-G-GGATA?dataset=gnomad_r3",
        "id": "15-72346579-G-GGATA",
        "variant": "15:72346579 G / GGATA"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-72346579-G-GGATA?dataset=gnomad_r4",
        "id": "15-72346579-G-GGATA",
        "variant": "15:72346579 G / GGATA"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "GATA",
          "end": 72346583,
          "referenceAllele": "",
          "start": 72346583
        }
      ],
      "hgvs": [
        "NC_000015.10:g.72346580_72346583dup",
        "CM000677.2:g.72346580_72346583dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "GATA",
          "end": 72638924,
          "referenceAllele": "",
          "start": 72638924
        }
      ],
      "hgvs": [
        "NC_000015.9:g.72638921_72638924dup",
        "CM000677.1:g.72638921_72638924dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "GATA",
          "end": 70425978,
          "referenceAllele": "",
          "start": 70425978
        }
      ],
      "hgvs": [
        "NC_000015.8:g.70425975_70425978dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 34600,
          "referenceAllele": "",
          "start": 34600
        }
      ],
      "hgvs": [
        "NG_009017.1:g.34597_34600dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001382"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 34600,
          "referenceAllele": "",
          "start": 34600
        }
      ],
      "hgvs": [
        "NG_009017.2:g.34597_34600dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673515"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1104,
          "endIntronDirection": "-",
          "endIntronOffset": 254,
          "referenceAllele": "",
          "start": 1104,
          "startIntronDirection": "-",
          "startIntronOffset": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567027.6:c.1074-258_1074-255dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457521.2:n.1074-258_1074-255dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826127"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1361,
          "referenceAllele": "",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682061.1:c.*936_*939dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508316.1:n.*936_*939dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827059"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 619,
          "referenceAllele": "",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682064.1:n.616_619dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827062"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1320,
          "referenceAllele": "",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682177.1:c.1317_1320dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507409.1:n.1317_1320dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827174"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 616,
          "referenceAllele": "",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682235.1:n.613_616dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827230"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1383,
          "referenceAllele": "",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682461.1:c.1380_1383dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507308.1:n.1380_1383dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827451"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1597,
          "referenceAllele": "",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682653.1:n.1594_1597dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827642"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 775,
          "endIntronDirection": "-",
          "endIntronOffset": 254,
          "referenceAllele": "",
          "start": 775,
          "startIntronDirection": "-",
          "startIntronOffset": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682657.1:c.*484-258_*484-255dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507753.1:n.*484-258_*484-255dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827646"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1386,
          "referenceAllele": "",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682721.1:c.*1077_*1080dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507535.1:n.*1077_*1080dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827710"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1338,
          "endIntronDirection": "-",
          "endIntronOffset": 254,
          "referenceAllele": "",
          "start": 1338,
          "startIntronDirection": "-",
          "startIntronOffset": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682843.1:c.*972-258_*972-255dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508173.1:n.*972-258_*972-255dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827831"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 936,
          "endIntronDirection": "-",
          "endIntronOffset": 254,
          "referenceAllele": "",
          "start": 936,
          "startIntronDirection": "-",
          "startIntronOffset": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683003.1:c.*484-258_*484-255dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507576.1:n.*484-258_*484-255dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827990"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1461,
          "referenceAllele": "",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683133.1:c.1458_1461dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508108.1:n.1458_1461dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828118"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 934,
          "endIntronDirection": "-",
          "endIntronOffset": 254,
          "referenceAllele": "",
          "start": 934,
          "startIntronDirection": "-",
          "startIntronOffset": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683243.1:c.*484-258_*484-255dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507042.1:n.*484-258_*484-255dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828225"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1235,
          "referenceAllele": "",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683463.1:c.*79_*82dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507986.1:n.*79_*82dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828439"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1104,
          "endIntronDirection": "-",
          "endIntronOffset": 254,
          "referenceAllele": "",
          "start": 1104,
          "startIntronDirection": "-",
          "startIntronOffset": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683548.1:n.1105-258_1105-255dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828521"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1549,
          "referenceAllele": "",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683579.1:c.*1172_*1175dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506867.1:n.*1172_*1175dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828552"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1177,
          "endIntronDirection": "-",
          "endIntronOffset": 254,
          "referenceAllele": "",
          "start": 1177,
          "startIntronDirection": "-",
          "startIntronOffset": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683587.1:n.1178-258_1178-255dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828560"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1314,
          "referenceAllele": "",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683681.1:c.1274_1277dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508110.1:p.Tyr427IlefsTer5",
        "hgvsWellDefined": "ENSP00000508110.1:p.[Tyr427_Tyr435del;Val437_Pro439del;Ala441_Thr445delinsTrp;Gln448_Glu456del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828652"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1427,
          "endIntronDirection": "-",
          "endIntronOffset": 254,
          "referenceAllele": "",
          "start": 1427,
          "startIntronDirection": "-",
          "startIntronOffset": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683735.1:c.*1045-258_*1045-255dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508336.1:n.*1045-258_*1045-255dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828706"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1235,
          "referenceAllele": "",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683853.1:c.*79_*82dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506834.1:n.*79_*82dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828820"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1314,
          "referenceAllele": "",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683860.1:c.1274_1277dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507179.1:p.Tyr427IlefsTer5",
        "hgvsWellDefined": "ENSP00000507179.1:p.[Tyr427_Tyr435del;Val437_Pro439del;Ala441_Thr445delinsTrp;Gln448_Glu456del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828827"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1177,
          "endIntronDirection": "-",
          "endIntronOffset": 254,
          "referenceAllele": "",
          "start": 1177,
          "startIntronDirection": "-",
          "startIntronOffset": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683884.1:c.1147-258_1147-255dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507004.1:n.1147-258_1147-255dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828851"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1314,
          "referenceAllele": "",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684041.1:c.1274_1277dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508382.1:p.Tyr427IlefsTer5",
        "hgvsWellDefined": "ENSP00000508382.1:p.[Tyr427_Tyr435del;Val437_Pro439del;Ala441_Thr445delinsTrp;Gln448_Glu456del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829002"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1104,
          "endIntronDirection": "-",
          "endIntronOffset": 254,
          "referenceAllele": "",
          "start": 1104,
          "startIntronDirection": "-",
          "startIntronOffset": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684125.1:c.1074-258_1074-255dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507320.1:n.1074-258_1074-255dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829083"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 3042,
          "referenceAllele": "",
          "start": 3042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684203.1:n.3039_3042dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829160"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1139,
          "referenceAllele": "",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684231.1:c.*684_*687dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507748.1:n.*684_*687dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829188"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1325,
          "referenceAllele": "",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684263.1:c.*214_*217dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508369.1:n.*214_*217dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829220"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1725,
          "referenceAllele": "",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684305.1:c.1722_1725dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506819.1:n.1722_1725dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829261"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1252,
          "referenceAllele": "",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684415.1:c.*141_*144dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507227.1:n.*141_*144dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829370"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1314,
          "referenceAllele": "",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684520.1:c.1274_1277dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506826.1:p.Tyr427IlefsTer5",
        "hgvsWellDefined": "ENSP00000506826.1:p.[Tyr427_Tyr435del;Val437_Pro439del;Ala441_Thr445delinsTrp;Gln448_Glu456del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829473"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1227,
          "referenceAllele": "",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684602.1:c.*940_*943dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507996.1:n.*940_*943dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829554"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1608,
          "referenceAllele": "",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684667.1:c.1605_1608dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507003.1:n.1605_1608dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829618"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1319,
          "referenceAllele": "",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000268097.10:c.1274_1277dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.6:p.Tyr427IlefsTer5",
        "hgvsWellDefined": "ENSP00000268097.6:p.[Tyr427_Tyr435del;Val437_Pro439del;Ala441_Thr445delinsTrp;Gln448_Glu456del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.1274_1277dup"
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.1274_1277dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Tyr427IlefsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Tyr427IlefsTer5"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1781,
          "referenceAllele": "",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000268097.9:c.1274_1277dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.5:p.Tyr427IlefsTer5",
        "hgvsWellDefined": "ENSP00000268097.5:p.[Tyr427_Tyr435del;Val437_Pro439del;Ala441_Thr445delinsTrp;Gln448_Glu456del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252048"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 421,
          "endIntronDirection": "-",
          "endIntronOffset": 254,
          "referenceAllele": "",
          "start": 421,
          "startIntronDirection": "-",
          "startIntronOffset": 254
        }
      ],
      "hgvs": [
        "ENST00000379915.4:c.413-258_413-255dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478716.1:n.413-258_413-255dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272694"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 825,
          "endIntronDirection": "-",
          "endIntronOffset": 254,
          "referenceAllele": "",
          "start": 825,
          "startIntronDirection": "-",
          "startIntronOffset": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000563762.5:c.826-258_826-255dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456346.1:n.826-258_826-255dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377635"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1331,
          "referenceAllele": "",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000566304.5:c.1307_1310dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455114.1:p.Tyr438IlefsTer5",
        "hgvsWellDefined": "ENSP00000455114.1:p.[Tyr438_Tyr446del;Val448_Pro450del;Ala452_Thr456delinsTrp;Gln459_Glu467del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379341"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1150,
          "referenceAllele": "",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000566672.5:c.*684_*687dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457037.1:n.*684_*687dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379607"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 945,
          "endIntronDirection": "-",
          "endIntronOffset": 254,
          "referenceAllele": "",
          "start": 945,
          "startIntronDirection": "-",
          "startIntronOffset": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567027.5:c.946-258_946-255dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379842"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1298,
          "referenceAllele": "",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567159.5:c.1274_1277dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456489.1:p.Tyr427IlefsTer5",
        "hgvsWellDefined": "ENSP00000456489.1:p.[Tyr427_Tyr435del;Val437_Pro439del;Ala441_Thr445delinsTrp;Gln448_Glu456del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379928"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1261,
          "referenceAllele": "",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567411.5:c.*795_*798dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455545.1:n.*795_*798dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380095"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 6550,
          "endIntronDirection": "-",
          "endIntronOffset": 254,
          "referenceAllele": "",
          "start": 6550,
          "startIntronDirection": "-",
          "startIntronOffset": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000568777.5:n.6551-258_6551-255dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381014"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1207,
          "referenceAllele": "",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000569410.5:c.*79_*82dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457125.1:n.*79_*82dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381456"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1484,
          "referenceAllele": "",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.4:c.1274_1277dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Tyr427IlefsTer5",
        "hgvsWellDefined": "NP_000511.2:p.[Tyr427_Tyr435del;Val437_Pro439del;Ala441_Thr445delinsTrp;Gln448_Glu456del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006577"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1778,
          "referenceAllele": "",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.5:c.1274_1277dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Tyr427IlefsTer5",
        "hgvsWellDefined": "NP_000511.2:p.[Tyr427_Tyr435del;Val437_Pro439del;Ala441_Thr445delinsTrp;Gln448_Glu456del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510809"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1811,
          "referenceAllele": "",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.1:c.1307_1310dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Tyr438IlefsTer5",
        "hgvsWellDefined": "NP_001305754.1:p.[Tyr438_Tyr446del;Val448_Pro450del;Ala452_Thr456delinsTrp;Gln459_Glu467del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513060"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1574,
          "endIntronDirection": "-",
          "endIntronOffset": 254,
          "referenceAllele": "",
          "start": 1574,
          "startIntronDirection": "-",
          "startIntronOffset": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.1:n.1575-258_1575-255dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527809"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1319,
          "referenceAllele": "",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.6:c.1274_1277dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Tyr427IlefsTer5",
        "hgvsWellDefined": "NP_000511.2:p.[Tyr427_Tyr435del;Val437_Pro439del;Ala441_Thr445delinsTrp;Gln448_Glu456del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.1274_1277dup"
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.1274_1277dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Tyr427IlefsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Tyr427IlefsTer5"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1352,
          "referenceAllele": "",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.2:c.1307_1310dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Tyr438IlefsTer5",
        "hgvsWellDefined": "NP_001305754.1:p.[Tyr438_Tyr446del;Val448_Pro450del;Ala452_Thr456delinsTrp;Gln459_Glu467del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684622"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1115,
          "endIntronDirection": "-",
          "endIntronOffset": 254,
          "referenceAllele": "",
          "start": 1115,
          "startIntronDirection": "-",
          "startIntronOffset": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.2:n.1116-258_1116-255dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703516"
    },
    {
      "coordinates": [
        {
          "allele": "TATC",
          "end": 1115,
          "endIntronDirection": "-",
          "endIntronOffset": 254,
          "referenceAllele": "",
          "start": 1115,
          "startIntronDirection": "-",
          "startIntronOffset": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.3:n.1116-258_1116-255dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730887"
    }
  ],
  "type": "nucleotide"
}