{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10588583",
  "communityStandardTitle": [
    "NM_000070.3(CAPN3):c.1115+5G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=260066[alleleid]",
        "alleleId": 260066,
        "preferredName": "NM_000070.3(CAPN3):c.1115+5G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265521",
        "RCV": [
          "RCV000255970",
          "RCV000822784"
        ],
        "variationId": 265521
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.42686544G>C?assembly=hg19",
        "id": "chr15:g.42686544G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.42394346G>C?assembly=hg38",
        "id": "chr15:g.42394346G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886039597",
        "rs": 886039597
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 42394346,
          "referenceAllele": "G",
          "start": 42394345
        }
      ],
      "hgvs": [
        "NC_000015.10:g.42394346G>C",
        "CM000677.2:g.42394346G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 42686544,
          "referenceAllele": "G",
          "start": 42686543
        }
      ],
      "hgvs": [
        "NC_000015.9:g.42686544G>C",
        "CM000677.1:g.42686544G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 40473836,
          "referenceAllele": "G",
          "start": 40473835
        }
      ],
      "hgvs": [
        "NC_000015.8:g.40473836G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 51244,
          "referenceAllele": "G",
          "start": 51243
        }
      ],
      "hgvs": [
        "NG_008660.1:g.51244G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001153"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1279,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1279,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000349748.8:c.971+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000183936.4:n.971+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1336,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1336,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000357568.8:c.1115+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350181.3:n.1115+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1420,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1420,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000397163.8:c.1115+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380349.3:n.1115+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397163.8:c.1115+5G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000070.3:c.1115+5G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380349.3:n.1115+5G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000061.1:n.1115+5G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1624,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1624,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "hgvs": [
        "ENST00000466369.5:n.1624+5G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756870"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1346,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1346,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "hgvs": [
        "ENST00000483208.5:n.1346+5G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1346,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1346,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "hgvs": [
        "ENST00000495723.1:n.1346+5G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757810"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1346,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1346,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "hgvs": [
        "ENST00000549793.5:n.1346+5G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759938"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 986,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 986,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000638141.2:n.986+5G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764372"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 99,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 99,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000673658.1:n.99+5G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773763"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 70,
          "endIntronDirection": "-",
          "endIntronOffset": 2453,
          "referenceAllele": "G",
          "start": 70,
          "startIntronDirection": "-",
          "startIntronOffset": 2454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000673705.1:c.71-2454G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501021.1:n.71-2454G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773804"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1277,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1277,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000318023.11:c.971+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326281.8:n.971+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257470"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1192,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1192,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000349748.7:c.971+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000183936.4:n.971+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1336,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1336,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000357568.7:c.1115+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350181.3:n.1115+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1334,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1334,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000397163.7:c.1115+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380349.3:n.1115+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277653"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1421,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1421,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_000070.2:c.1115+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000061.1:n.1115+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006134"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1421,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1421,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_024344.1:c.1115+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_077320.1:n.1115+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037749"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1277,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1277,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_173087.1:c.971+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_775110.1:n.971+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1420,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1420,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_000070.3:c.1115+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000061.1:n.1115+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397163.8:c.1115+5G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000070.3:c.1115+5G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380349.3:n.1115+5G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000061.1:n.1115+5G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1420,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1420,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_024344.2:c.1115+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_077320.1:n.1115+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1276,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1276,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_173087.2:c.971+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_775110.1:n.971+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729559"
    }
  ],
  "type": "nucleotide"
}