{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA913185101",
  "communityStandardTitle": [
    "NM_005529.7(HSPG2):c.8464+4A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29956[alleleid]",
        "alleleId": 29956,
        "preferredName": "NM_005529.7(HSPG2):c.8464+4A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14917",
        "RCV": [
          "RCV001800293"
        ],
        "variationId": 14917
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1572204991",
        "rs": 1572204991
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 21846104,
          "referenceAllele": "T",
          "start": 21846103
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21846104T>C",
        "CM000663.2:g.21846104T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 22172597,
          "referenceAllele": "T",
          "start": 22172596
        }
      ],
      "hgvs": [
        "NC_000001.10:g.22172597T>C",
        "CM000663.1:g.22172597T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 22045184,
          "referenceAllele": "T",
          "start": 22045183
        }
      ],
      "hgvs": [
        "NC_000001.9:g.22045184T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 96154,
          "referenceAllele": "A",
          "start": 96153
        }
      ],
      "hgvs": [
        "NG_016740.1:g.96154A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8557,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 8557,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.8:c.8464+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:n.8464+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.8464+4A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.8464+4A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:n.8464+4A>G"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:n.8464+4A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8544,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 8544,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.7:c.8464+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:n.8464+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8547,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 8547,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.1:c.8467+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:n.8467+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8544,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 8544,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.6:c.8464+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:n.8464+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030620"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9025,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 9025,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710594.2:c.9010+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710657.1:n.9010+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8977,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 8977,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710595.2:c.8962+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710658.1:n.8962+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068700"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8956,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 8956,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710596.2:c.8941+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710659.1:n.8941+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068701"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8479,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 8479,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710597.2:c.8464+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710660.1:n.8464+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9028,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 9028,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541317.1:c.9013+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539619.1:n.9013+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108259"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9028,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 9028,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.1:c.9013+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:n.9013+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9028,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 9028,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541319.1:c.9013+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539621.1:n.9013+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8749,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 8749,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541320.1:c.8734+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539622.1:n.8734+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108262"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8533,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 8533,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541321.1:c.8518+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539623.1:n.8518+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9028,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 9028,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.2:c.9013+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:n.9013+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8674,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 8674,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001120.1:c.8659+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856609.1:n.8659+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8623,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 8623,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001121.1:c.8608+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856610.1:n.8608+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8620,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 8620,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001122.1:c.8605+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856611.1:n.8605+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8557,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 8557,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.7:c.8464+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:n.8464+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.8464+4A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.8464+4A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:n.8464+4A>G"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:n.8464+4A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8560,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 8560,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.2:c.8467+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:n.8467+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682883"
    }
  ],
  "type": "nucleotide"
}