{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA521587734",
  "communityStandardTitle": [
    "NM_005529.7(HSPG2):c.11208-7G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=491193[alleleid]",
        "alleleId": 491193,
        "preferredName": "NM_005529.7(HSPG2):c.11208-7G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/499769",
        "RCV": [
          "RCV000593717",
          "RCV001261555",
          "RCV001824152"
        ],
        "variationId": 499769
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.22158296C>T?assembly=hg19",
        "id": "chr1:g.22158296C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21831803C>T?assembly=hg38",
        "id": "chr1:g.21831803C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1336552092",
        "rs": 1336552092
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22158296-C-T?dataset=gnomad_r2_1",
        "id": "1-22158296-C-T",
        "variant": "1:22158296 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21831803-C-T?dataset=gnomad_r4",
        "id": "1-21831803-C-T",
        "variant": "1:21831803 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 21831803,
          "referenceAllele": "C",
          "start": 21831802
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21831803C>T",
        "CM000663.2:g.21831803C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 22158296,
          "referenceAllele": "C",
          "start": 22158295
        }
      ],
      "hgvs": [
        "NC_000001.10:g.22158296C>T",
        "CM000663.1:g.22158296C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 22030883,
          "referenceAllele": "C",
          "start": 22030882
        }
      ],
      "hgvs": [
        "NC_000001.9:g.22030883C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 110455,
          "referenceAllele": "G",
          "start": 110454
        }
      ],
      "hgvs": [
        "NG_016740.1:g.110455G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11300,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11300,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.8:c.11208-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:n.11208-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.11208-7G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.11208-7G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:n.11208-7G>A"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:n.11208-7G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11287,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11287,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.7:c.11208-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:n.11208-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 358,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000635682.1:c.359-7G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11290,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11290,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.1:c.11211-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:n.11211-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11287,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11287,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.6:c.11208-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:n.11208-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11786,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11786,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710594.2:c.11772-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710657.1:n.11772-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11738,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11738,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710595.2:c.11724-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710658.1:n.11724-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11717,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11717,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710596.2:c.11703-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710659.1:n.11703-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11240,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11240,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710597.2:c.11226-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710660.1:n.11226-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11789,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11789,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541317.1:c.11775-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539619.1:n.11775-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11771,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11771,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.1:c.11757-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:n.11757-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11789,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11789,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541319.1:c.11775-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539621.1:n.11775-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11510,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11510,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541320.1:c.11496-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539622.1:n.11496-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11294,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11294,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541321.1:c.11280-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539623.1:n.11280-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11771,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11771,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.2:c.11757-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:n.11757-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11417,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11417,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001120.1:c.11403-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856609.1:n.11403-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11366,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11366,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001121.1:c.11352-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856610.1:n.11352-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11363,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11363,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001122.1:c.11349-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856611.1:n.11349-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11300,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11300,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.7:c.11208-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:n.11208-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.11208-7G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.11208-7G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:n.11208-7G>A"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:n.11208-7G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11303,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 11303,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.2:c.11211-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:n.11211-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682883"
    }
  ],
  "type": "nucleotide"
}