{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15556080",
  "communityStandardTitle": [
    "NM_182643.3(DLC1):c.1349-85508G>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.13058674C>G?assembly=hg19",
        "id": "chr8:g.13058674C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.13201165C>G?assembly=hg38",
        "id": "chr8:g.13201165C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2016444",
        "rs": 2016444
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-13058674-C-G?dataset=gnomad_r2_1",
        "id": "8-13058674-C-G",
        "variant": "8:13058674 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-13201165-C-G?dataset=gnomad_r3",
        "id": "8-13201165-C-G",
        "variant": "8:13201165 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-13201165-C-G?dataset=gnomad_r4",
        "id": "8-13201165-C-G",
        "variant": "8:13201165 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 13201165,
          "referenceAllele": "C",
          "start": 13201164
        }
      ],
      "hgvs": [
        "NC_000008.11:g.13201165C>G",
        "CM000670.2:g.13201165C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 13058674,
          "referenceAllele": "C",
          "start": 13058673
        }
      ],
      "hgvs": [
        "NC_000008.10:g.13058674C>G",
        "CM000670.1:g.13058674C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 13103045,
          "referenceAllele": "C",
          "start": 13103044
        }
      ],
      "hgvs": [
        "NC_000008.9:g.13103045C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 318756,
          "referenceAllele": "G",
          "start": 318755
        }
      ],
      "hgvs": [
        "NG_015998.1:g.318756G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002944"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 408441,
          "referenceAllele": "G",
          "start": 408440
        }
      ],
      "hgvs": [
        "NG_015998.2:g.408441G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616211"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1723,
          "endIntronDirection": "-",
          "endIntronOffset": 85507,
          "referenceAllele": "G",
          "start": 1723,
          "startIntronDirection": "-",
          "startIntronOffset": 85508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002897",
      "geneNCBI_id": 10395,
      "geneSymbol": "DLC1",
      "hgvs": [
        "ENST00000276297.9:c.1349-85508G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000276297.4:n.1349-85508G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000276297.9:c.1349-85508G>C"
          },
          "RefSeq": {
            "hgvs": "NM_182643.3:c.1349-85508G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000276297.4:n.1349-85508G>C"
          },
          "RefSeq": {
            "hgvs": "NP_872584.2:n.1349-85508G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1758,
          "endIntronDirection": "-",
          "endIntronOffset": 85507,
          "referenceAllele": "G",
          "start": 1758,
          "startIntronDirection": "-",
          "startIntronOffset": 85508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002897",
      "geneNCBI_id": 10395,
      "geneSymbol": "DLC1",
      "hgvs": [
        "ENST00000276297.8:c.1349-85508G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000276297.4:n.1349-85508G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252675"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 179,
          "endIntronDirection": "+",
          "endIntronOffset": 75530,
          "referenceAllele": "G",
          "start": 179,
          "startIntronDirection": "+",
          "startIntronOffset": 75529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002897",
      "geneNCBI_id": 10395,
      "geneSymbol": "DLC1",
      "hgvs": [
        "ENST00000503161.6:c.-238+75530G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429537.1:n.-238+75530G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 90,
          "endIntronDirection": "+",
          "endIntronOffset": 75530,
          "referenceAllele": "G",
          "start": 90,
          "startIntronDirection": "+",
          "startIntronOffset": 75529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002897",
      "geneNCBI_id": 10395,
      "geneSymbol": "DLC1",
      "hgvs": [
        "ENST00000509922.5:n.90+75530G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340573"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 285,
          "endIntronDirection": "+",
          "endIntronOffset": 75097,
          "referenceAllele": "G",
          "start": 285,
          "startIntronDirection": "+",
          "startIntronOffset": 75096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002897",
      "geneNCBI_id": 10395,
      "geneSymbol": "DLC1",
      "hgvs": [
        "ENST00000512044.6:c.139+75097G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422595.2:n.139+75097G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 287,
          "endIntronDirection": "+",
          "endIntronOffset": 75097,
          "referenceAllele": "G",
          "start": 287,
          "startIntronDirection": "+",
          "startIntronOffset": 75096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002897",
      "geneNCBI_id": 10395,
      "geneSymbol": "DLC1",
      "hgvs": [
        "NM_001316668.1:c.139+75097G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303597.1:n.139+75097G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026603"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1792,
          "endIntronDirection": "-",
          "endIntronOffset": 85507,
          "referenceAllele": "G",
          "start": 1792,
          "startIntronDirection": "-",
          "startIntronOffset": 85508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002897",
      "geneNCBI_id": 10395,
      "geneSymbol": "DLC1",
      "hgvs": [
        "NM_182643.2:c.1349-85508G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_872584.2:n.1349-85508G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1673,
          "endIntronDirection": "-",
          "endIntronOffset": 85507,
          "referenceAllele": "G",
          "start": 1673,
          "startIntronDirection": "-",
          "startIntronOffset": 85508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002897",
      "geneNCBI_id": 10395,
      "geneSymbol": "DLC1",
      "hgvs": [
        "XM_005273374.1:c.1349-85508G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273431.1:n.1349-85508G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067565"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1553,
          "endIntronDirection": "-",
          "endIntronOffset": 85507,
          "referenceAllele": "G",
          "start": 1553,
          "startIntronDirection": "-",
          "startIntronOffset": 85508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002897",
      "geneNCBI_id": 10395,
      "geneSymbol": "DLC1",
      "hgvs": [
        "NM_001348081.1:c.1349-85508G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335010.1:n.1349-85508G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1553,
          "endIntronDirection": "-",
          "endIntronOffset": 85507,
          "referenceAllele": "G",
          "start": 1553,
          "startIntronDirection": "-",
          "startIntronOffset": 85508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002897",
      "geneNCBI_id": 10395,
      "geneSymbol": "DLC1",
      "hgvs": [
        "NM_001348082.1:c.-103-85508G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335011.1:n.-103-85508G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 90,
          "endIntronDirection": "+",
          "endIntronOffset": 75530,
          "referenceAllele": "G",
          "start": 90,
          "startIntronDirection": "+",
          "startIntronOffset": 75529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002897",
      "geneNCBI_id": 10395,
      "geneSymbol": "DLC1",
      "hgvs": [
        "NM_001348083.1:c.-186+75530G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335012.1:n.-186+75530G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1723,
          "endIntronDirection": "-",
          "endIntronOffset": 85507,
          "referenceAllele": "G",
          "start": 1723,
          "startIntronDirection": "-",
          "startIntronOffset": 85508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002897",
      "geneNCBI_id": 10395,
      "geneSymbol": "DLC1",
      "hgvs": [
        "NM_182643.3:c.1349-85508G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_872584.2:n.1349-85508G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673011",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000276297.9:c.1349-85508G>C"
          },
          "RefSeq": {
            "hgvs": "NM_182643.3:c.1349-85508G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000276297.4:n.1349-85508G>C"
          },
          "RefSeq": {
            "hgvs": "NP_872584.2:n.1349-85508G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 260,
          "endIntronDirection": "+",
          "endIntronOffset": 75097,
          "referenceAllele": "G",
          "start": 260,
          "startIntronDirection": "+",
          "startIntronOffset": 75096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002897",
      "geneNCBI_id": 10395,
      "geneSymbol": "DLC1",
      "hgvs": [
        "NM_001316668.2:c.139+75097G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303597.1:n.139+75097G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684180"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1557,
          "endIntronDirection": "-",
          "endIntronOffset": 85507,
          "referenceAllele": "G",
          "start": 1557,
          "startIntronDirection": "-",
          "startIntronOffset": 85508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002897",
      "geneNCBI_id": 10395,
      "geneSymbol": "DLC1",
      "hgvs": [
        "NM_001348081.2:c.1349-85508G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335010.1:n.1349-85508G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1557,
          "endIntronDirection": "-",
          "endIntronOffset": 85507,
          "referenceAllele": "G",
          "start": 1557,
          "startIntronDirection": "-",
          "startIntronOffset": 85508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002897",
      "geneNCBI_id": 10395,
      "geneSymbol": "DLC1",
      "hgvs": [
        "NM_001348082.2:c.-103-85508G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335011.1:n.-103-85508G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687571"
    }
  ],
  "type": "nucleotide"
}