{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2339067155",
  "communityStandardTitle": [
    "NM_024301.5(FKRP):c.235G= (p.Val79=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894683",
        "rs": 104894683
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 46755685,
          "referenceAllele": "G",
          "start": 46755684
        }
      ],
      "hgvs": [
        "NC_000019.10:g.46755685G=",
        "CM000681.2:g.46755685G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 47258942,
          "referenceAllele": "G",
          "start": 47258941
        }
      ],
      "hgvs": [
        "NC_000019.9:g.47258942G=",
        "CM000681.1:g.47258942G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 51950782,
          "referenceAllele": "G",
          "start": 51950781
        }
      ],
      "hgvs": [
        "NC_000019.8:g.51950782G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14640,
          "referenceAllele": "G",
          "start": 14639
        }
      ],
      "hgvs": [
        "NG_008898.2:g.14640G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001290"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 521,
          "referenceAllele": "G",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000318584.10:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326570.4:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746230",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318584.10:c.235G="
          },
          "RefSeq": {
            "hgvs": "NM_024301.5:c.235G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326570.4:p.Val79="
          },
          "RefSeq": {
            "hgvs": "NP_077277.1:p.Val79="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 532,
          "referenceAllele": "G",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000318584.9:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326570.4:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000391909.7:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375776.2:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 523,
          "referenceAllele": "G",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000593800.5:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471209.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394358"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 569,
          "referenceAllele": "G",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000593875.5:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470297.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000593902.1:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470901.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "referenceAllele": "G",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000594467.5:c.-195G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471971.1:n.-195G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 461,
          "referenceAllele": "G",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000596974.5:n.461G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "endIntronDirection": "-",
          "endIntronOffset": 6147,
          "referenceAllele": "G",
          "start": 246,
          "startIntronDirection": "-",
          "startIntronOffset": 6148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000597339.5:n.247-6148G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395923"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 441,
          "referenceAllele": "G",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000600005.5:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470335.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 476,
          "referenceAllele": "G",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000600227.5:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468825.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 592,
          "referenceAllele": "G",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000600629.5:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470096.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397373"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 247,
          "endIntronDirection": "+",
          "endIntronOffset": 7020,
          "referenceAllele": "G",
          "start": 247,
          "startIntronDirection": "+",
          "startIntronOffset": 7019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000600646.5:n.247+7020G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397379"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 381,
          "referenceAllele": "G",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000601299.5:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470103.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 430,
          "referenceAllele": "G",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000602181.5:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472981.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398077"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825388096",
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_001039885.2:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001034974.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830023057",
      "coordinates": [
        {
          "allele": "G",
          "end": 532,
          "referenceAllele": "G",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_024301.4:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "NP_077277.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037714"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259247.1:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259304.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 604,
          "referenceAllele": "G",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259248.1:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259305.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 582,
          "referenceAllele": "G",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259249.3:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259306.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 630,
          "referenceAllele": "G",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259250.3:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259307.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527301.1:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525603.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094395"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 915,
          "referenceAllele": "G",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527302.1:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525604.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094396"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 728,
          "referenceAllele": "G",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527303.1:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525605.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 666,
          "referenceAllele": "G",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527304.1:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525606.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094398"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 512,
          "referenceAllele": "G",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527305.1:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525607.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094399"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 381,
          "referenceAllele": "G",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527306.1:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525608.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 430,
          "referenceAllele": "G",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527307.1:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525609.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259247.2:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259304.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534968"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 635,
          "referenceAllele": "G",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259248.2:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259305.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534969"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 577,
          "referenceAllele": "G",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259249.4:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259306.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534970"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "G",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527306.2:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525608.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 740,
          "referenceAllele": "G",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_017027297.2:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016882786.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577270"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "referenceAllele": "G",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_024451707.1:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307475.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825388096",
      "coordinates": [
        {
          "allele": "G",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_001039885.3:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001034974.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675931"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830023057",
      "coordinates": [
        {
          "allele": "G",
          "end": 521,
          "referenceAllele": "G",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_024301.5:c.235G="
      ],
      "proteinEffect": {
        "hgvs": "NP_077277.1:p.Val79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698678",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318584.10:c.235G="
          },
          "RefSeq": {
            "hgvs": "NM_024301.5:c.235G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326570.4:p.Val79="
          },
          "RefSeq": {
            "hgvs": "NP_077277.1:p.Val79="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}