{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16602240",
  "communityStandardTitle": [
    "NM_023083.4(CAPN10):c.997+136_998-148dup"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20133[alleleid]",
        "alleleId": 20133,
        "preferredName": "NM_023083.4(CAPN10):c.997+136_998-148dup"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5094",
        "RCV": [
          "RCV001799497"
        ],
        "variationId": 5094
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.241534262_241534293dup32?assembly=hg19",
        "id": "chr2:g.241534262_241534293dup32"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.241534257_241534258insGAGCCGGGAGGAGGGTGATGATTCTGTCCCAG?assembly=hg19",
        "id": "chr2:g.241534257_241534258insGAGCCGGGAGGAGGGTGATGATTCTGTCCCAG"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.241534256_241534257insGGAGCCGGGAGGAGGGTGATGATTCTGTCCCA?assembly=hg19",
        "id": "chr2:g.241534256_241534257insGGAGCCGGGAGGAGGGTGATGATTCTGTCCCA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.241534246_241534247insTTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA?assembly=hg19",
        "id": "chr2:g.241534246_241534247insTTCTGTCCCAGGAGCCGGGAGGAGGGTGATGA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.241534245_241534246insATTCTGTCCCAGGAGCCGGGAGGAGGGTGATG?assembly=hg19",
        "id": "chr2:g.241534245_241534246insATTCTGTCCCAGGAGCCGGGAGGAGGGTGATG"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.241534244_241534245insGATTCTGTCCCAGGAGCCGGGAGGAGGGTGAT?assembly=hg19",
        "id": "chr2:g.241534244_241534245insGATTCTGTCCCAGGAGCCGGGAGGAGGGTGAT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.241534241_241534242insGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT?assembly=hg19",
        "id": "chr2:g.241534241_241534242insGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.240594845_240594876dup32?assembly=hg38",
        "id": "chr2:g.240594845_240594876dup32"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.240594824_240594825insGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT?assembly=hg38",
        "id": "chr2:g.240594824_240594825insGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3842570",
        "rs": 3842570
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-240594824-A-AGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT?dataset=gnomad_r3",
        "id": "2-240594824-A-AGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
        "variant": "2:240594824 A / AGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-240594824-A-AGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT?dataset=gnomad_r4",
        "id": "2-240594824-A-AGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT",
        "variant": "2:240594824 A / AGATGATTCTGTCCCAGGAGCCGGGAGGAGGGT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 240594876,
          "referenceAllele": "",
          "start": 240594876
        }
      ],
      "hgvs": [
        "NC_000002.12:g.240594845_240594876dup",
        "CM000664.2:g.240594845_240594876dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 241534293,
          "referenceAllele": "",
          "start": 241534293
        }
      ],
      "hgvs": [
        "NC_000002.11:g.241534262_241534293dup",
        "CM000664.1:g.241534262_241534293dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 241182966,
          "referenceAllele": "",
          "start": 241182966
        }
      ],
      "hgvs": [
        "NC_000002.10:g.241182935_241182966dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 13161,
          "referenceAllele": "",
          "start": 13161
        }
      ],
      "hgvs": [
        "NG_011558.2:g.13130_13161dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001818"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 1175,
          "endIntronDirection": "-",
          "endIntronOffset": 147,
          "referenceAllele": "",
          "start": 1175,
          "startIntronDirection": "-",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001477",
      "geneNCBI_id": 11132,
      "geneSymbol": "CAPN10",
      "hgvs": [
        "ENST00000391984.7:c.997+136_998-148dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375844.2:n.997+136_998-148dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752948",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391984.7:c.997+136_998-148dup"
          },
          "RefSeq": {
            "hgvs": "NM_023083.4:c.997+136_998-148dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375844.2:n.997+136_998-148dup"
          },
          "RefSeq": {
            "hgvs": "NP_075571.2:n.997+136_998-148dup"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 1027,
          "endIntronDirection": "-",
          "endIntronOffset": 147,
          "referenceAllele": "",
          "start": 1027,
          "startIntronDirection": "-",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001477",
      "geneNCBI_id": 11132,
      "geneSymbol": "CAPN10",
      "hgvs": [
        "ENST00000270361.15:c.*161+136_*162-148dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270361.11:n.*161+136_*162-148dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252243"
    },
    {
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 413,
          "endIntronDirection": "+",
          "endIntronOffset": 5402,
          "referenceAllele": "",
          "start": 413,
          "startIntronDirection": "+",
          "startIntronOffset": 5402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001477",
      "geneNCBI_id": 11132,
      "geneSymbol": "CAPN10",
      "hgvs": [
        "ENST00000270364.11:c.273+5371_273+5402dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270364.7:n.273+5371_273+5402dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252244"
    },
    {
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 182,
          "endIntronDirection": "-",
          "endIntronOffset": 3011,
          "referenceAllele": "",
          "start": 182,
          "startIntronDirection": "-",
          "startIntronOffset": 3011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001477",
      "geneNCBI_id": 11132,
      "geneSymbol": "CAPN10",
      "hgvs": [
        "ENST00000352879.8:c.142-3043_142-3012dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289381.6:n.142-3043_142-3012dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262908"
    },
    {
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 1038,
          "endIntronDirection": "-",
          "endIntronOffset": 147,
          "referenceAllele": "",
          "start": 1038,
          "startIntronDirection": "-",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001477",
      "geneNCBI_id": 11132,
      "geneSymbol": "CAPN10",
      "hgvs": [
        "ENST00000354082.8:c.997+136_998-148dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270362.6:n.997+136_998-148dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263022"
    },
    {
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 1038,
          "endIntronDirection": "-",
          "endIntronOffset": 147,
          "referenceAllele": "",
          "start": 1038,
          "startIntronDirection": "-",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001477",
      "geneNCBI_id": 11132,
      "geneSymbol": "CAPN10",
      "hgvs": [
        "ENST00000357048.8:c.997+136_998-148dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349556.4:n.997+136_998-148dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263962"
    },
    {
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 1038,
          "endIntronDirection": "-",
          "endIntronOffset": 147,
          "referenceAllele": "",
          "start": 1038,
          "startIntronDirection": "-",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001477",
      "geneNCBI_id": 11132,
      "geneSymbol": "CAPN10",
      "hgvs": [
        "ENST00000391983.7:c.997+136_998-148dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375843.3:n.997+136_998-148dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274856"
    },
    {
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 1193,
          "endIntronDirection": "-",
          "endIntronOffset": 147,
          "referenceAllele": "",
          "start": 1193,
          "startIntronDirection": "-",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001477",
      "geneNCBI_id": 11132,
      "geneSymbol": "CAPN10",
      "hgvs": [
        "ENST00000391984.6:c.997+136_998-148dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375844.2:n.997+136_998-148dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274857"
    },
    {
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 1170,
          "endIntronDirection": "-",
          "endIntronOffset": 147,
          "referenceAllele": "",
          "start": 1170,
          "startIntronDirection": "-",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001477",
      "geneNCBI_id": 11132,
      "geneSymbol": "CAPN10",
      "hgvs": [
        "ENST00000404753.7:c.997+136_998-148dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384422.3:n.997+136_998-148dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280147"
    },
    {
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 1038,
          "endIntronDirection": "-",
          "endIntronOffset": 147,
          "referenceAllele": "",
          "start": 1038,
          "startIntronDirection": "-",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001477",
      "geneNCBI_id": 11132,
      "geneSymbol": "CAPN10",
      "hgvs": [
        "ENST00000416591.5:c.997+136_998-148dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400144.1:n.997+136_998-148dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284519"
    },
    {
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 469,
          "endIntronDirection": "-",
          "endIntronOffset": 147,
          "referenceAllele": "",
          "start": 469,
          "startIntronDirection": "-",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001477",
      "geneNCBI_id": 11132,
      "geneSymbol": "CAPN10",
      "hgvs": [
        "ENST00000465943.1:n.469+136_470-148dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309438"
    },
    {
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 2576,
          "endIntronDirection": "-",
          "endIntronOffset": 147,
          "referenceAllele": "",
          "start": 2576,
          "startIntronDirection": "-",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001477",
      "geneNCBI_id": 11132,
      "geneSymbol": "CAPN10",
      "hgvs": [
        "ENST00000494738.5:n.2576+136_2577-148dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331593"
    },
    {
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 1193,
          "endIntronDirection": "-",
          "endIntronOffset": 147,
          "referenceAllele": "",
          "start": 1193,
          "startIntronDirection": "-",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001477",
      "geneNCBI_id": 11132,
      "geneSymbol": "CAPN10",
      "hgvs": [
        "NM_023083.3:c.997+136_998-148dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_075571.1:n.997+136_998-148dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037563"
    },
    {
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 1193,
          "endIntronDirection": "-",
          "endIntronOffset": 147,
          "referenceAllele": "",
          "start": 1193,
          "startIntronDirection": "-",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001477",
      "geneNCBI_id": 11132,
      "geneSymbol": "CAPN10",
      "hgvs": [
        "NM_023085.3:c.997+136_998-148dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_075573.2:n.997+136_998-148dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037564"
    },
    {
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 1175,
          "endIntronDirection": "-",
          "endIntronOffset": 147,
          "referenceAllele": "",
          "start": 1175,
          "startIntronDirection": "-",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001477",
      "geneNCBI_id": 11132,
      "geneSymbol": "CAPN10",
      "hgvs": [
        "NM_023083.4:c.997+136_998-148dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_075571.2:n.997+136_998-148dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670553",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391984.7:c.997+136_998-148dup"
          },
          "RefSeq": {
            "hgvs": "NM_023083.4:c.997+136_998-148dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375844.2:n.997+136_998-148dup"
          },
          "RefSeq": {
            "hgvs": "NP_075571.2:n.997+136_998-148dup"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC",
          "end": 1175,
          "endIntronDirection": "-",
          "endIntronOffset": 147,
          "referenceAllele": "",
          "start": 1175,
          "startIntronDirection": "-",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001477",
      "geneNCBI_id": 11132,
      "geneSymbol": "CAPN10",
      "hgvs": [
        "NM_023085.4:c.997+136_998-148dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_075573.3:n.997+136_998-148dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698624"
    }
  ],
  "type": "nucleotide"
}