{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041735",
  "communityStandardTitle": [
    "NM_000520.6(HEXA):c.1043_1046del (p.Phe348CysfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358305[alleleid]",
        "alleleId": 358305,
        "preferredName": "NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370773",
        "RCV": [
          "RCV000411211"
        ],
        "variationId": 370773
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.72640416_72640419del?assembly=hg19",
        "id": "chr15:g.72640416_72640419del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.72348075_72348078del?assembly=hg38",
        "id": "chr15:g.72348075_72348078del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516755",
        "rs": 1057516755
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-72348074-CTTGA-C?dataset=gnomad_r4",
        "id": "15-72348074-CTTGA-C",
        "variant": "15:72348074 CTTGA / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 72348078,
          "referenceAllele": "TTGA",
          "start": 72348074
        }
      ],
      "hgvs": [
        "NC_000015.10:g.72348075_72348078del",
        "CM000677.2:g.72348075_72348078del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 72640419,
          "referenceAllele": "TTGA",
          "start": 72640415
        }
      ],
      "hgvs": [
        "NC_000015.9:g.72640416_72640419del",
        "CM000677.1:g.72640416_72640419del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 70427473,
          "referenceAllele": "TTGA",
          "start": 70427469
        }
      ],
      "hgvs": [
        "NC_000015.8:g.70427470_70427473del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 33105,
          "referenceAllele": "TCAA",
          "start": 33101
        }
      ],
      "hgvs": [
        "NG_009017.1:g.33102_33105del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001382"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 33105,
          "referenceAllele": "TCAA",
          "start": 33101
        }
      ],
      "hgvs": [
        "NG_009017.2:g.33102_33105del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673515"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3392,
          "referenceAllele": "TCAA",
          "start": 3388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000563908.2:n.3389_3392del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826099"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1077,
          "referenceAllele": "TCAA",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567027.6:c.1043_1046del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457521.2:p.Phe348CysfsTer?",
        "hgvsWellDefined": "ENSP00000457521.2:p.[Phe348_Lys349delinsCysSerTrpSerProSerThrSerArgArgThrProGlu;Gln350_Leu351insLysAla;Leu351_Glu352insValIleGlyGly;Ser353_Thr358delinsAlaCysMetTrpGlyGlu;Pro360Val]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826127"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1130,
          "referenceAllele": "TCAA",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682061.1:c.*705_*708del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508316.1:n.*705_*708del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827059"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1089,
          "referenceAllele": "TCAA",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682177.1:c.1086_1089del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507409.1:n.1086_1089del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827174"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1152,
          "referenceAllele": "TCAA",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682461.1:c.1149_1152del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507308.1:n.1149_1152del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827451"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1077,
          "referenceAllele": "TCAA",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682653.1:n.1074_1077del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827642"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 748,
          "referenceAllele": "TCAA",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682657.1:c.*453_*456del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507753.1:n.*453_*456del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827646"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1155,
          "referenceAllele": "TCAA",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682721.1:c.*846_*849del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507535.1:n.*846_*849del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827710"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1311,
          "referenceAllele": "TCAA",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682843.1:c.*941_*944del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508173.1:n.*941_*944del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827831"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 909,
          "referenceAllele": "TCAA",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683003.1:c.*453_*456del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507576.1:n.*453_*456del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827990"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1230,
          "referenceAllele": "TCAA",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683133.1:c.1227_1230del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508108.1:n.1227_1230del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828118"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1077,
          "referenceAllele": "TCAA",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683228.1:n.1074_1077del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 907,
          "referenceAllele": "TCAA",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683243.1:c.*453_*456del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507042.1:n.*453_*456del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828225"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1077,
          "referenceAllele": "TCAA",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683463.1:c.1043_1046del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507986.1:p.Phe348CysfsTer?",
        "hgvsWellDefined": "ENSP00000507986.1:p.[Phe348_Glu352delinsCysSerTrpSerPro;Phe354_Gln361delinsThrSerArgHisSerAlaArgHisAsnHis;Gln363_Tyr365delinsGlyValAla;Cys367_Gly368delinsGlyTyrSerSer;Arg370_Gln373delinsLeuTyrGluGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828439"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1077,
          "referenceAllele": "TCAA",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683548.1:n.1074_1077del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828521"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1318,
          "referenceAllele": "TCAA",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683579.1:c.*941_*944del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506867.1:n.*941_*944del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828552"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1077,
          "referenceAllele": "TCAA",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683587.1:n.1074_1077del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828560"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1083,
          "referenceAllele": "TCAA",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683681.1:c.1043_1046del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508110.1:p.Phe348CysfsTer?",
        "hgvsWellDefined": "ENSP00000508110.1:p.[Phe348_Glu352delinsCysSerTrpSerPro;Phe354_Val363delinsThrSerArgArgCysTrpThr;Tyr366_Val372delinsLeuLeuMetAlaArgAlaMet;Gln374_Asp378delinsCysGlyArgArgCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828652"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1327,
          "referenceAllele": "TCAA",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683735.1:c.*941_*944del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508336.1:n.*941_*944del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828706"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 877,
          "referenceAllele": "TCAA",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683742.1:n.874_877del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828713"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1077,
          "referenceAllele": "TCAA",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683853.1:c.1043_1046del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506834.1:p.Phe348CysfsTer?",
        "hgvsWellDefined": "ENSP00000506834.1:p.[Phe348_Glu352delinsCysSerTrpSerPro;Phe354_Gln361delinsThrSerArgHisSerAlaArgHisAsnHis;Gln363_Tyr365delinsGlyValAla;Cys367_Gly368delinsGlyTyrSerSer;Arg370_Gln373delinsLeuTyrGluGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828820"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1083,
          "referenceAllele": "TCAA",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683860.1:c.1043_1046del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507179.1:p.Phe348CysfsTer?",
        "hgvsWellDefined": "ENSP00000507179.1:p.[Phe348_Glu352delinsCysSerTrpSerPro;Phe354_Val363delinsThrSerArgArgCysTrpThr;Tyr366_Val372delinsLeuLeuMetAlaArgAlaMet;Gln374_Asp378delinsCysGlyArgArgCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828827"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1077,
          "referenceAllele": "TCAA",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683884.1:c.1043_1046del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507004.1:p.Phe348CysfsTer?",
        "hgvsWellDefined": "ENSP00000507004.1:p.[Phe348_Glu352delinsCysSerTrpSerPro;Phe354_Val363delinsThrSerArgArgCysTrpThr;Tyr366_Val372delinsLeuLeuMetAlaArgAlaMet;Gln374_Asp378delinsCysGlyArgArgCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828851"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1083,
          "referenceAllele": "TCAA",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684041.1:c.1043_1046del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508382.1:p.Phe348CysfsTer?",
        "hgvsWellDefined": "ENSP00000508382.1:p.[Phe348_Glu352delinsCysSerTrpSerPro;Phe354_Val363delinsThrSerArgArgCysTrpThr;Tyr366_Val372delinsLeuLeuMetAlaArgAlaMet;Gln374_Asp378delinsCysGlyArgArgCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829002"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1077,
          "referenceAllele": "TCAA",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684125.1:c.1043_1046del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507320.1:p.Phe348CysfsTer?",
        "hgvsWellDefined": "ENSP00000507320.1:p.[Phe348_Lys349delinsCysSerTrpSerProSerThrSerArgArgThrProGlu;Gln350_Leu351insLysAla;Leu351_Glu352insValIleGlyGly;Ser353_Thr358delinsAlaCysMetTrpGlyGlu;Pro360Val]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829083"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2884,
          "referenceAllele": "TCAA",
          "start": 2880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684203.1:n.2881_2884del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829160"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 908,
          "referenceAllele": "TCAA",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684231.1:c.*453_*456del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507748.1:n.*453_*456del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829188"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1077,
          "referenceAllele": "TCAA",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684263.1:c.1043_1046del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508369.1:p.Phe348CysfsTer?",
        "hgvsWellDefined": "ENSP00000508369.1:p.[Phe348_Glu352delinsCysSerTrpSerPro;Ser353_Phe354insThrSerArgArgGluGluGlyArgArgAlaAlaGlyHisArgLeu;Tyr355_Ile356delinsLeuTrp;Thr358delinsGlyLeuCysGlyVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829220"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1494,
          "referenceAllele": "TCAA",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684305.1:c.1491_1494del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506819.1:n.1491_1494del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829261"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1077,
          "referenceAllele": "TCAA",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684415.1:c.1043_1046del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507227.1:p.Phe348CysfsTer?",
        "hgvsWellDefined": "ENSP00000507227.1:p.[Phe348_Glu352delinsCysSerTrpSerPro;Phe354_Tyr355delinsThrSerArgArgGluGluGlyArgArg;Gln357_Thr358insProAsp;Thr358_Ter359insIleIleGlnValTrpArgGluAspIlePro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829370"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1083,
          "referenceAllele": "TCAA",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684520.1:c.1043_1046del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506826.1:p.Phe348CysfsTer?",
        "hgvsWellDefined": "ENSP00000506826.1:p.[Phe348_Glu352delinsCysSerTrpSerPro;Phe354_Val363delinsThrSerArgArgCysTrpThr;Tyr366_Val372delinsLeuLeuMetAlaArgAlaMet;Gln374_Asp378delinsCysGlyArgArgCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829473"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 996,
          "referenceAllele": "TCAA",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684602.1:c.*709_*712del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507996.1:n.*709_*712del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829554"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1377,
          "referenceAllele": "TCAA",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684667.1:c.1374_1377del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507003.1:n.1374_1377del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829618"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1088,
          "referenceAllele": "TCAA",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000268097.10:c.1043_1046del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.6:p.Phe348CysfsTer?",
        "hgvsWellDefined": "ENSP00000268097.6:p.[Phe348_Glu352delinsCysSerTrpSerPro;Phe354_Val363delinsThrSerArgArgCysTrpThr;Tyr366_Val372delinsLeuLeuMetAlaArgAlaMet;Gln374_Asp378delinsCysGlyArgArgCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.1043_1046del"
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.1043_1046del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Phe348CysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Phe348CysfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1550,
          "referenceAllele": "TCAA",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000268097.9:c.1043_1046del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.5:p.Phe348CysfsTer?",
        "hgvsWellDefined": "ENSP00000268097.5:p.[Phe348_Glu352delinsCysSerTrpSerPro;Phe354_Val363delinsThrSerArgArgCysTrpThr;Tyr366_Val372delinsLeuLeuMetAlaArgAlaMet;Gln374_Asp378delinsCysGlyArgArgCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252048"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 421,
          "endIntronDirection": "-",
          "endIntronOffset": 1749,
          "referenceAllele": "TCAA",
          "start": 421,
          "startIntronDirection": "-",
          "startIntronOffset": 1753
        }
      ],
      "hgvs": [
        "ENST00000379915.4:c.413-1753_413-1750del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478716.1:n.413-1753_413-1750del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272694"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 798,
          "referenceAllele": "TCAA",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000563762.5:c.795_798del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456346.1:n.795_798del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377635"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1100,
          "referenceAllele": "TCAA",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000566304.5:c.1076_1079del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455114.1:p.Phe359CysfsTer?",
        "hgvsWellDefined": "ENSP00000455114.1:p.[Phe359_Glu363delinsCysSerTrpSerPro;Phe365_Val374delinsThrSerArgArgCysTrpThr;Tyr377_Val383delinsLeuLeuMetAlaArgAlaMet;Gln385_Asp389delinsCysGlyArgArgCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379341"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 919,
          "referenceAllele": "TCAA",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000566672.5:c.*453_*456del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457037.1:n.*453_*456del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379607"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 918,
          "referenceAllele": "TCAA",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567027.5:c.915_918del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379842"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1067,
          "referenceAllele": "TCAA",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567159.5:c.1043_1046del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456489.1:p.Phe348CysfsTer?",
        "hgvsWellDefined": "ENSP00000456489.1:p.[Phe348_Glu352delinsCysSerTrpSerPro;Phe354_Val363delinsThrSerArgArgCysTrpThr;Tyr366_Val372delinsLeuLeuMetAlaArgAlaMet;Gln374_Asp378delinsCysGlyArgArgCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379928"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1030,
          "referenceAllele": "TCAA",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567411.5:c.*564_*567del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455545.1:n.*564_*567del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380095"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6450,
          "referenceAllele": "TCAA",
          "start": 6446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000568777.5:n.6447_6450del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381014"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1049,
          "referenceAllele": "TCAA",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000569410.5:c.1043_1046del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457125.1:p.Phe348CysfsTer?",
        "hgvsWellDefined": "ENSP00000457125.1:p.[Phe348_Glu352delinsCysSerTrpSerPro;Phe354_Gln361delinsThrSerArgHisSerAlaArgHisAsnHis;Gln363_Tyr365delinsGlyValAla;Cys367_Gly368delinsGlyTyrSerSer;Arg370_Gln373delinsLeuTyrGluGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381456"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1253,
          "referenceAllele": "TCAA",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.4:c.1043_1046del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Phe348CysfsTer?",
        "hgvsWellDefined": "NP_000511.2:p.[Phe348_Glu352delinsCysSerTrpSerPro;Phe354_Val363delinsThrSerArgArgCysTrpThr;Tyr366_Val372delinsLeuLeuMetAlaArgAlaMet;Gln374_Asp378delinsCysGlyArgArgCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006577"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1547,
          "referenceAllele": "TCAA",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.5:c.1043_1046del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Phe348CysfsTer?",
        "hgvsWellDefined": "NP_000511.2:p.[Phe348_Glu352delinsCysSerTrpSerPro;Phe354_Val363delinsThrSerArgArgCysTrpThr;Tyr366_Val372delinsLeuLeuMetAlaArgAlaMet;Gln374_Asp378delinsCysGlyArgArgCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510809"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1580,
          "referenceAllele": "TCAA",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.1:c.1076_1079del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Phe359CysfsTer?",
        "hgvsWellDefined": "NP_001305754.1:p.[Phe359_Glu363delinsCysSerTrpSerPro;Phe365_Val374delinsThrSerArgArgCysTrpThr;Tyr377_Val383delinsLeuLeuMetAlaArgAlaMet;Gln385_Asp389delinsCysGlyArgArgCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513060"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1547,
          "referenceAllele": "TCAA",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.1:n.1544_1547del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527809"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1088,
          "referenceAllele": "TCAA",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.6:c.1043_1046del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Phe348CysfsTer?",
        "hgvsWellDefined": "NP_000511.2:p.[Phe348_Glu352delinsCysSerTrpSerPro;Phe354_Val363delinsThrSerArgArgCysTrpThr;Tyr366_Val372delinsLeuLeuMetAlaArgAlaMet;Gln374_Asp378delinsCysGlyArgArgCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.1043_1046del"
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.1043_1046del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Phe348CysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Phe348CysfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1121,
          "referenceAllele": "TCAA",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.2:c.1076_1079del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Phe359CysfsTer?",
        "hgvsWellDefined": "NP_001305754.1:p.[Phe359_Glu363delinsCysSerTrpSerPro;Phe365_Val374delinsThrSerArgArgCysTrpThr;Tyr377_Val383delinsLeuLeuMetAlaArgAlaMet;Gln385_Asp389delinsCysGlyArgArgCysLeuIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684622"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1088,
          "referenceAllele": "TCAA",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.2:n.1085_1088del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703516"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1088,
          "referenceAllele": "TCAA",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.3:n.1085_1088del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730887"
    }
  ],
  "type": "nucleotide"
}