{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2956503349",
  "communityStandardTitle": [
    "NM_024301.5(FKRP):c.527del (p.Arg176GlnfsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 46755977,
          "referenceAllele": "G",
          "start": 46755976
        }
      ],
      "hgvs": [
        "NC_000019.10:g.46755977del",
        "CM000681.2:g.46755977del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 47259234,
          "referenceAllele": "G",
          "start": 47259233
        }
      ],
      "hgvs": [
        "NC_000019.9:g.47259234del",
        "CM000681.1:g.47259234del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 51951074,
          "referenceAllele": "G",
          "start": 51951073
        }
      ],
      "hgvs": [
        "NC_000019.8:g.51951074del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 14932,
          "referenceAllele": "G",
          "start": 14931
        }
      ],
      "hgvs": [
        "NG_008898.2:g.14932del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001290"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 813,
          "referenceAllele": "G",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000318584.10:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326570.4:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "ENSP00000326570.4:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746230",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318584.10:c.527del"
          },
          "RefSeq": {
            "hgvs": "NM_024301.5:c.527del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326570.4:p.Arg176GlnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_077277.1:p.Arg176GlnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 824,
          "referenceAllele": "G",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000318584.9:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326570.4:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "ENSP00000326570.4:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257554"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 865,
          "referenceAllele": "G",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000391909.7:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375776.2:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "ENSP00000375776.2:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274819"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 538,
          "referenceAllele": "G",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000594467.5:c.98del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471971.1:p.Arg33GlnfsTer?",
        "hgvsWellDefined": "ENSP00000471971.1:p.Arg33_Trp35delinsGlnSer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394670"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 246,
          "endIntronDirection": "-",
          "endIntronOffset": 5855,
          "referenceAllele": "G",
          "start": 246,
          "startIntronDirection": "-",
          "startIntronOffset": 5856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000597339.5:n.247-5856del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395923"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 247,
          "endIntronDirection": "+",
          "endIntronOffset": 7312,
          "referenceAllele": "G",
          "start": 247,
          "startIntronDirection": "+",
          "startIntronOffset": 7311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000600646.5:n.247+7312del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397379"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 876,
          "referenceAllele": "G",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_001039885.2:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001034974.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "NP_001034974.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009459"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 824,
          "referenceAllele": "G",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_024301.4:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "NP_077277.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "NP_077277.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037714"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 936,
          "referenceAllele": "G",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259247.1:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259304.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "XP_005259304.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062349"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 896,
          "referenceAllele": "G",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259248.1:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259305.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "XP_005259305.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062350"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259249.3:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259306.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "XP_005259306.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062351"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 922,
          "referenceAllele": "G",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259250.3:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259307.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "XP_005259307.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062352"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1218,
          "referenceAllele": "G",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527301.1:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525603.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "XP_011525603.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094395"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1207,
          "referenceAllele": "G",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527302.1:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525604.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "XP_011525604.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094396"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1020,
          "referenceAllele": "G",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527303.1:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525605.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "XP_011525605.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094397"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 958,
          "referenceAllele": "G",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527304.1:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525606.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "XP_011525606.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094398"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 804,
          "referenceAllele": "G",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527305.1:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525607.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "XP_011525607.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094399"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 673,
          "referenceAllele": "G",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527306.1:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525608.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "XP_011525608.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094400"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527307.1:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525609.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "XP_011525609.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094401"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 937,
          "referenceAllele": "G",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259247.2:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259304.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "XP_005259304.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534968"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259248.2:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259305.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "XP_005259305.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534969"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 869,
          "referenceAllele": "G",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259249.4:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259306.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "XP_005259306.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534970"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527306.2:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525608.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "XP_011525608.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548617"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1032,
          "referenceAllele": "G",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_017027297.2:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882786.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "XP_016882786.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577270"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 734,
          "referenceAllele": "G",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_024451707.1:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307475.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "XP_024307475.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585218"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 865,
          "referenceAllele": "G",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_001039885.3:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001034974.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "NP_001034974.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675931"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 813,
          "referenceAllele": "G",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_024301.5:c.527del"
      ],
      "proteinEffect": {
        "hgvs": "NP_077277.1:p.Arg176GlnfsTer?",
        "hgvsWellDefined": "NP_077277.1:p.[Arg176_Gly183delinsGlnSerGlyProProAlaMet;Ala185Gln;Ala187_Ala188delinsPro;Cys191_Asp192delinsProAla;Leu194_Arg203delinsThrProTrpThrGluMetLeuTrpCysSerCys;Arg205delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698678",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318584.10:c.527del"
          },
          "RefSeq": {
            "hgvs": "NM_024301.5:c.527del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326570.4:p.Arg176GlnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_077277.1:p.Arg176GlnfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}