{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6328983",
  "communityStandardTitle": [
    "NM_003105.6(SORL1):c.2571+15G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN15323574"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1538096[alleleid]",
        "alleleId": 1538096,
        "preferredName": "NM_003105.6(SORL1):c.2571+15G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1548278",
        "RCV": [
          "RCV002186998"
        ],
        "variationId": 1548278
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-121426042-G-A",
        "id": "11-121426042-G-A",
        "variant": "11:121426042 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.121426042G>A?assembly=hg19",
        "id": "chr11:g.121426042G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.121555333G>A?assembly=hg38",
        "id": "chr11:g.121555333G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6589885",
        "rs": 6589885
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-121426042-G-A?dataset=gnomad_r2_1",
        "id": "11-121426042-G-A",
        "variant": "11:121426042 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-121555333-G-A?dataset=gnomad_r3",
        "id": "11-121555333-G-A",
        "variant": "11:121555333 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-121555333-G-A?dataset=gnomad_r4",
        "id": "11-121555333-G-A",
        "variant": "11:121555333 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 121555333,
          "referenceAllele": "G",
          "start": 121555332
        }
      ],
      "hgvs": [
        "NC_000011.10:g.121555333G>A",
        "CM000673.2:g.121555333G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 121426042,
          "referenceAllele": "G",
          "start": 121426041
        }
      ],
      "hgvs": [
        "NC_000011.9:g.121426042G>A",
        "CM000673.1:g.121426042G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 120931252,
          "referenceAllele": "G",
          "start": 120931251
        }
      ],
      "hgvs": [
        "NC_000011.8:g.120931252G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 108082,
          "referenceAllele": "G",
          "start": 108081
        }
      ],
      "hgvs": [
        "NG_023313.1:g.108082G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003790"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 2589,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "ENST00000260197.12:c.2571+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260197.6:n.2571+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260197.12:c.2571+15G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003105.6:c.2571+15G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260197.6:n.2571+15G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003096.2:n.2571+15G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2700,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 2700,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "ENST00000260197.11:c.2571+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260197.6:n.2571+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 277,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 277,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "ENST00000529445.1:n.277+15G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2700,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 2700,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "NM_003105.5:c.2571+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003096.1:n.2571+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2575,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 2575,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "XM_011542963.1:c.2571+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541265.1:n.2571+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2575,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 2575,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "XM_011542964.1:c.2571+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541266.1:n.2571+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1609,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 1609,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "XM_011542965.1:c.1032+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541267.1:n.1032+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 119,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 119,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "XM_011542966.1:c.23+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541268.1:n.23+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2575,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 2575,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "XM_011542963.3:c.2571+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541265.1:n.2571+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1741,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 1741,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "XM_011542965.3:c.1032+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541267.1:n.1032+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2372,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 2372,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "XM_017018169.2:c.2259+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873658.1:n.2259+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2083,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 2083,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "XM_017018170.2:c.2046+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873659.1:n.2046+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2575,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 2575,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "XM_017018171.1:c.2571+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873660.1:n.2571+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 664,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 664,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "XM_017018172.2:c.23+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873661.1:n.23+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 2589,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "NM_003105.6:c.2571+15G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003096.2:n.2571+15G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665880",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260197.12:c.2571+15G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003105.6:c.2571+15G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260197.6:n.2571+15G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003096.2:n.2571+15G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}