{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341478",
  "communityStandardTitle": [
    "NM_000070.3(CAPN3):c.1795dup (p.Thr599AsnfsTer?)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1372927",
        "active": true,
        "id": "COSM1372927"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32659[alleleid]",
        "alleleId": 32659,
        "preferredName": "NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17620",
        "RCV": [
          "RCV000518261",
          "RCV001814001",
          "RCV003473109",
          "RCV000019187"
        ],
        "variationId": 17620
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-42698129-G-GA",
        "id": "15-42698129-G-GA",
        "variant": "15:42698129 G / GA"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.42698136dupA?assembly=hg19",
        "id": "chr15:g.42698136dupA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.42698132_42698133insA?assembly=hg19",
        "id": "chr15:g.42698132_42698133insA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.42698130_42698131insA?assembly=hg19",
        "id": "chr15:g.42698130_42698131insA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.42698129_42698130insA?assembly=hg19",
        "id": "chr15:g.42698129_42698130insA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.42405938dupA?assembly=hg38",
        "id": "chr15:g.42405938dupA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.42405931_42405932insA?assembly=hg38",
        "id": "chr15:g.42405931_42405932insA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338803",
        "rs": 80338803
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-42698129-G-GA?dataset=gnomad_r2_1",
        "id": "15-42698129-G-GA",
        "variant": "15:42698129 G / GA"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-42405931-G-GA?dataset=gnomad_r4",
        "id": "15-42405931-G-GA",
        "variant": "15:42405931 G / GA"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 42405938,
          "referenceAllele": "",
          "start": 42405938
        }
      ],
      "hgvs": [
        "NC_000015.10:g.42405938dup",
        "CM000677.2:g.42405938dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 42698136,
          "referenceAllele": "",
          "start": 42698136
        }
      ],
      "hgvs": [
        "NC_000015.9:g.42698136dup",
        "CM000677.1:g.42698136dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 40485428,
          "referenceAllele": "",
          "start": 40485428
        }
      ],
      "hgvs": [
        "NC_000015.8:g.40485428dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 62836,
          "referenceAllele": "",
          "start": 62836
        }
      ],
      "hgvs": [
        "NG_008660.1:g.62836dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001153"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 208,
          "endIntronDirection": "+",
          "endIntronOffset": 970,
          "referenceAllele": "",
          "start": 208,
          "startIntronDirection": "+",
          "startIntronOffset": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000337571.9:c.-82+970dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336840.4:n.-82+970dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1946,
          "endIntronDirection": "+",
          "endIntronOffset": 2161,
          "referenceAllele": "",
          "start": 1946,
          "startIntronDirection": "+",
          "startIntronOffset": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000349748.8:c.1638+2161dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000183936.4:n.1638+2161dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2003,
          "endIntronDirection": "+",
          "endIntronOffset": 2161,
          "referenceAllele": "",
          "start": 2003,
          "startIntronDirection": "+",
          "startIntronOffset": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000357568.8:c.1782+2161dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350181.3:n.1782+2161dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2100,
          "referenceAllele": "",
          "start": 2100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000397163.8:c.1795dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380349.3:p.Thr599AsnfsTer?",
        "hgvsWellDefined": "ENSP00000380349.3:p.[Thr599_Leu615delinsAsnGlnAlaHisHisLeuArgPheGlyGlnSerLysGlnGlnGlnGlyAla;Val617_Glu623delinsCysGlyProGlyValArgGly;Lys625_Thr628delinsGlnArgGlnAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397163.8:c.1795dup"
          },
          "RefSeq": {
            "hgvs": "NM_000070.3:c.1795dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380349.3:p.Thr599AsnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000061.1:p.Thr599AsnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 164,
          "referenceAllele": "",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000397204.9:c.-87dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380387.4:n.-87dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753619"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2291,
          "endIntronDirection": "+",
          "endIntronOffset": 2161,
          "referenceAllele": "",
          "start": 2291,
          "startIntronDirection": "+",
          "startIntronOffset": 2161
        }
      ],
      "hgvs": [
        "ENST00000466369.5:n.2291+2161dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2671,
          "endIntronDirection": "+",
          "endIntronOffset": 2161,
          "referenceAllele": "",
          "start": 2671,
          "startIntronDirection": "+",
          "startIntronOffset": 2161
        }
      ],
      "hgvs": [
        "ENST00000495723.1:n.2671+2161dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2013,
          "endIntronDirection": "+",
          "endIntronOffset": 2161,
          "referenceAllele": "",
          "start": 2013,
          "startIntronDirection": "+",
          "startIntronOffset": 2161
        }
      ],
      "hgvs": [
        "ENST00000549793.5:n.2013+2161dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 174,
          "endIntronDirection": "+",
          "endIntronOffset": 983,
          "referenceAllele": "",
          "start": 174,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000565173.2:n.174+983dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 236,
          "referenceAllele": "",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000569136.6:c.-201dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455254.1:n.-201dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760584"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1653,
          "endIntronDirection": "+",
          "endIntronOffset": 2161,
          "referenceAllele": "",
          "start": 1653,
          "startIntronDirection": "+",
          "startIntronOffset": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000638141.2:n.1653+2161dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 359,
          "referenceAllele": "",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000673646.1:c.359dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501007.1:n.359dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773755"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 71,
          "endIntronDirection": "+",
          "endIntronOffset": 1087,
          "referenceAllele": "",
          "start": 71,
          "startIntronDirection": "+",
          "startIntronOffset": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000673692.1:c.-4+1087dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501138.1:n.-4+1087dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773792"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 309,
          "endIntronDirection": "-",
          "endIntronOffset": 3364,
          "referenceAllele": "",
          "start": 309,
          "startIntronDirection": "-",
          "startIntronOffset": 3364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000673705.1:c.310-3365dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501021.1:n.310-3365dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773804"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 192,
          "endIntronDirection": "+",
          "endIntronOffset": 983,
          "referenceAllele": "",
          "start": 192,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000673743.1:c.-437+983dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500989.1:n.-437+983dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773835"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1066,
          "referenceAllele": "",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000673750.1:c.-2468dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501173.1:n.-2468dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 208,
          "endIntronDirection": "+",
          "endIntronOffset": 970,
          "referenceAllele": "",
          "start": 208,
          "startIntronDirection": "+",
          "startIntronOffset": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000673771.1:c.-196+970dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501023.1:n.-196+970dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "endIntronDirection": "+",
          "endIntronOffset": 983,
          "referenceAllele": "",
          "start": 124,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000673839.1:c.-340+983dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501188.1:n.-340+983dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773909"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 156,
          "referenceAllele": "",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000673851.1:c.-545dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501142.1:n.-545dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1972,
          "referenceAllele": "",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000673854.1:n.1972dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 150,
          "endIntronDirection": "-",
          "endIntronOffset": 758,
          "referenceAllele": "",
          "start": 150,
          "startIntronDirection": "-",
          "startIntronOffset": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000673886.1:c.-928-759dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501155.1:n.-928-759dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773943"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 211,
          "endIntronDirection": "+",
          "endIntronOffset": 983,
          "referenceAllele": "",
          "start": 211,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000673890.1:c.-196+983dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501293.1:n.-196+983dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "endIntronDirection": "+",
          "endIntronOffset": 983,
          "referenceAllele": "",
          "start": 102,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000673928.1:c.-340+983dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501099.1:n.-340+983dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 109,
          "endIntronDirection": "+",
          "endIntronOffset": 1087,
          "referenceAllele": "",
          "start": 109,
          "startIntronDirection": "+",
          "startIntronOffset": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000673936.1:c.-196+1087dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501189.1:n.-196+1087dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 192,
          "endIntronDirection": "+",
          "endIntronOffset": 983,
          "referenceAllele": "",
          "start": 192,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000673939.1:c.-82+983dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501129.1:n.-82+983dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773992"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "endIntronDirection": "+",
          "endIntronOffset": 983,
          "referenceAllele": "",
          "start": 124,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000673978.1:c.-362+983dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500976.1:n.-362+983dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "referenceAllele": "",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000673987.1:c.-201dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501231.1:n.-201dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81,
          "endIntronDirection": "+",
          "endIntronOffset": 983,
          "referenceAllele": "",
          "start": 81,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000674011.1:c.-196+983dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501171.1:n.-196+983dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 75,
          "endIntronDirection": "+",
          "endIntronOffset": 970,
          "referenceAllele": "",
          "start": 75,
          "startIntronDirection": "+",
          "startIntronOffset": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000674012.1:n.75+970dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 169,
          "endIntronDirection": "+",
          "endIntronOffset": 970,
          "referenceAllele": "",
          "start": 169,
          "startIntronDirection": "+",
          "startIntronOffset": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000674018.1:c.-540+970dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501271.1:n.-540+970dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 90,
          "endIntronDirection": "+",
          "endIntronOffset": 983,
          "referenceAllele": "",
          "start": 90,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000674041.1:c.-82+983dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500956.1:n.-82+983dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1154,
          "referenceAllele": "",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000674052.1:c.19dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501057.1:p.Thr7AsnfsTer?",
        "hgvsWellDefined": "ENSP00000501057.1:p.[Thr7_Leu23delinsAsnGlnAlaHisHisLeuArgPheGlyGlnSerLysGlnGlnGlnGlyAla;Val25_Glu31delinsCysGlyProGlyValArgGly;Lys33_Thr36delinsGlnArgGlnAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774077"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 179,
          "endIntronDirection": "+",
          "endIntronOffset": 983,
          "referenceAllele": "",
          "start": 179,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000674064.1:n.179+983dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "endIntronDirection": "+",
          "endIntronOffset": 983,
          "referenceAllele": "",
          "start": 256,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000674093.1:c.-82+983dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501303.1:n.-82+983dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 78,
          "endIntronDirection": "+",
          "endIntronOffset": 1087,
          "referenceAllele": "",
          "start": 78,
          "startIntronDirection": "+",
          "startIntronOffset": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000674119.1:c.-82+1087dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501217.1:n.-82+1087dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774138"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 66,
          "endIntronDirection": "+",
          "endIntronOffset": 983,
          "referenceAllele": "",
          "start": 66,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000674135.1:c.-132+983dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501178.1:n.-132+983dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1130,
          "referenceAllele": "",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000674139.1:c.-2468dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501054.1:n.-2468dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 205,
          "referenceAllele": "",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000674146.1:c.-529dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501175.1:n.-529dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 196,
          "endIntronDirection": "+",
          "endIntronOffset": 983,
          "referenceAllele": "",
          "start": 196,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000674149.1:c.-524+983dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501112.1:n.-524+983dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774165"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1957,
          "referenceAllele": "",
          "start": 1957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000318023.11:c.1651dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326281.8:p.Thr551AsnfsTer?",
        "hgvsWellDefined": "ENSP00000326281.8:p.[Thr551_Leu567delinsAsnGlnAlaHisHisLeuArgPheGlyGlnSerLysGlnGlnGlnGlyAla;Val569_Glu575delinsCysGlyProGlyValArgGly;Lys577_Thr580delinsGlnArgGlnAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 177,
          "endIntronDirection": "+",
          "endIntronOffset": 983,
          "referenceAllele": "",
          "start": 177,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000337571.8:c.-82+983dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336840.4:n.-82+983dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260496"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1859,
          "endIntronDirection": "+",
          "endIntronOffset": 2161,
          "referenceAllele": "",
          "start": 1859,
          "startIntronDirection": "+",
          "startIntronOffset": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000349748.7:c.1638+2161dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000183936.4:n.1638+2161dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 186,
          "endIntronDirection": "+",
          "endIntronOffset": 974,
          "referenceAllele": "",
          "start": 186,
          "startIntronDirection": "+",
          "startIntronOffset": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000356316.7:c.-91+974dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348667.4:n.-91+974dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2003,
          "endIntronDirection": "+",
          "endIntronOffset": 2161,
          "referenceAllele": "",
          "start": 2003,
          "startIntronDirection": "+",
          "startIntronOffset": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000357568.7:c.1782+2161dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350181.3:n.1782+2161dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2014,
          "referenceAllele": "",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000397163.7:c.1795dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380349.3:p.Thr599AsnfsTer?",
        "hgvsWellDefined": "ENSP00000380349.3:p.[Thr599_Leu615delinsAsnGlnAlaHisHisLeuArgPheGlyGlnSerLysGlnGlnGlnGlyAla;Val617_Glu623delinsCysGlyProGlyValArgGly;Lys625_Thr628delinsGlnArgGlnAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277653"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 428,
          "referenceAllele": "",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000397200.8:c.259dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380384.4:p.Thr87AsnfsTer?",
        "hgvsWellDefined": "ENSP00000380384.4:p.[Thr87_Leu103delinsAsnGlnAlaHisHisLeuArgPheGlyGlnSerLysGlnGlnGlnGlyAla;Val105_Glu111delinsCysGlyProGlyValArgGly;Lys113_Thr116delinsGlnArgGlnAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 138,
          "referenceAllele": "",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000397204.8:c.-87dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380387.4:n.-87dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 158,
          "endIntronDirection": "+",
          "endIntronOffset": 983,
          "referenceAllele": "",
          "start": 158,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000561817.5:c.-82+983dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456575.1:n.-82+983dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 129,
          "endIntronDirection": "+",
          "endIntronOffset": 983,
          "referenceAllele": "",
          "start": 129,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000565173.1:n.129+983dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7,
          "referenceAllele": "",
          "start": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000565274.5:c.7dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457759.1:p.Thr3AsnfsTer?",
        "hgvsWellDefined": "ENSP00000457759.1:p.[Thr3_Leu19delinsAsnGlnAlaHisHisLeuArgPheGlyGlnSerLysGlnGlnGlnGlyAla;Val21_Glu27delinsCysGlyProGlyValArgGly;Lys29_Thr32delinsGlnArgGlnAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "referenceAllele": "",
          "start": 102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000565559.5:c.-137dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457878.1:n.-137dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 254,
          "referenceAllele": "",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000567071.5:c.254dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 189,
          "referenceAllele": "",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000569136.5:c.-201dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455254.1:n.-201dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 387,
          "endIntronDirection": "+",
          "endIntronOffset": 2161,
          "referenceAllele": "",
          "start": 387,
          "startIntronDirection": "+",
          "startIntronOffset": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "ENST00000569827.5:c.246+2161dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454379.1:n.246+2161dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2101,
          "referenceAllele": "",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_000070.2:c.1795dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000061.1:p.Thr599AsnfsTer?",
        "hgvsWellDefined": "NP_000061.1:p.[Thr599_Leu615delinsAsnGlnAlaHisHisLeuArgPheGlyGlnSerLysGlnGlnGlnGlyAla;Val617_Glu623delinsCysGlyProGlyValArgGly;Lys625_Thr628delinsGlnArgGlnAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2088,
          "endIntronDirection": "+",
          "endIntronOffset": 2161,
          "referenceAllele": "",
          "start": 2088,
          "startIntronDirection": "+",
          "startIntronOffset": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_024344.1:c.1782+2161dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_077320.1:n.1782+2161dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1944,
          "endIntronDirection": "+",
          "endIntronOffset": 2161,
          "referenceAllele": "",
          "start": 1944,
          "startIntronDirection": "+",
          "startIntronOffset": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_173087.1:c.1638+2161dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_775110.1:n.1638+2161dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 428,
          "referenceAllele": "",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_173088.1:c.259dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_775111.1:p.Thr87AsnfsTer?",
        "hgvsWellDefined": "NP_775111.1:p.[Thr87_Leu103delinsAsnGlnAlaHisHisLeuArgPheGlyGlnSerLysGlnGlnGlnGlyAla;Val105_Glu111delinsCysGlyProGlyValArgGly;Lys113_Thr116delinsGlnArgGlnAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 177,
          "endIntronDirection": "+",
          "endIntronOffset": 983,
          "referenceAllele": "",
          "start": 177,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_173089.1:c.-82+983dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_775112.1:n.-82+983dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 190,
          "referenceAllele": "",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_173090.1:c.-87dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_775113.1:n.-87dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2100,
          "referenceAllele": "",
          "start": 2100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_000070.3:c.1795dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000061.1:p.Thr599AsnfsTer?",
        "hgvsWellDefined": "NP_000061.1:p.[Thr599_Leu615delinsAsnGlnAlaHisHisLeuArgPheGlyGlnSerLysGlnGlnGlnGlyAla;Val617_Glu623delinsCysGlyProGlyValArgGly;Lys625_Thr628delinsGlnArgGlnAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397163.8:c.1795dup"
          },
          "RefSeq": {
            "hgvs": "NM_000070.3:c.1795dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380349.3:p.Thr599AsnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000061.1:p.Thr599AsnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2087,
          "endIntronDirection": "+",
          "endIntronOffset": 2161,
          "referenceAllele": "",
          "start": 2087,
          "startIntronDirection": "+",
          "startIntronOffset": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_024344.2:c.1782+2161dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_077320.1:n.1782+2161dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1943,
          "endIntronDirection": "+",
          "endIntronOffset": 2161,
          "referenceAllele": "",
          "start": 1943,
          "startIntronDirection": "+",
          "startIntronOffset": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_173087.2:c.1638+2161dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_775110.1:n.1638+2161dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 451,
          "referenceAllele": "",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_173088.2:c.259dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_775111.1:p.Thr87AsnfsTer?",
        "hgvsWellDefined": "NP_775111.1:p.[Thr87_Leu103delinsAsnGlnAlaHisHisLeuArgPheGlyGlnSerLysGlnGlnGlnGlyAla;Val105_Glu111delinsCysGlyProGlyValArgGly;Lys113_Thr116delinsGlnArgGlnAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 192,
          "endIntronDirection": "+",
          "endIntronOffset": 983,
          "referenceAllele": "",
          "start": 192,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_173089.2:c.-82+983dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_775112.1:n.-82+983dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 205,
          "referenceAllele": "",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_173090.2:c.-87dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_775113.1:n.-87dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729562"
    }
  ],
  "type": "nucleotide"
}