{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2469910850",
  "communityStandardTitle": [
    "NM_033284.2(TBL1Y):c.-140+4942C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/192028702",
        "rs": 192028702
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "C",
          "end": 7000840,
          "referenceAllele": "C",
          "start": 7000839
        }
      ],
      "hgvs": [
        "NC_000024.10:g.7000840C=",
        "CM000686.2:g.7000840C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000072"
    },
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "C",
          "end": 6868881,
          "referenceAllele": "C",
          "start": 6868880
        }
      ],
      "hgvs": [
        "NC_000024.9:g.6868881C=",
        "CM000686.1:g.6868881C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000048"
    },
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "C",
          "end": 6928881,
          "referenceAllele": "C",
          "start": 6928880
        }
      ],
      "hgvs": [
        "NC_000024.8:g.6928881C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000024"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 497,
          "endIntronDirection": "+",
          "endIntronOffset": 4942,
          "referenceAllele": "C",
          "start": 497,
          "startIntronDirection": "+",
          "startIntronOffset": 4941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018502",
      "geneNCBI_id": 90665,
      "geneSymbol": "TBL1Y",
      "hgvs": [
        "ENST00000383032.6:c.-140+4942C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372499.1:n.-140+4942C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752699",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000383032.6:c.-140+4942C="
          },
          "RefSeq": {
            "hgvs": "NM_033284.2:c.-140+4942C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372499.1:n.-140+4942C="
          },
          "RefSeq": {
            "hgvs": "NP_150600.1:n.-140+4942C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 413,
          "endIntronDirection": "-",
          "endIntronOffset": 20608,
          "referenceAllele": "C",
          "start": 413,
          "startIntronDirection": "-",
          "startIntronOffset": 20609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018502",
      "geneNCBI_id": 90665,
      "geneSymbol": "TBL1Y",
      "hgvs": [
        "ENST00000346432.3:c.-139-20609C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328879.4:n.-139-20609C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262264"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 477,
          "endIntronDirection": "+",
          "endIntronOffset": 4942,
          "referenceAllele": "C",
          "start": 477,
          "startIntronDirection": "+",
          "startIntronOffset": 4941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018502",
      "geneNCBI_id": 90665,
      "geneSymbol": "TBL1Y",
      "hgvs": [
        "ENST00000355162.6:c.-140+4942C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347289.2:n.-140+4942C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 508,
          "endIntronDirection": "+",
          "endIntronOffset": 4942,
          "referenceAllele": "C",
          "start": 508,
          "startIntronDirection": "+",
          "startIntronOffset": 4941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018502",
      "geneNCBI_id": 90665,
      "geneSymbol": "TBL1Y",
      "hgvs": [
        "ENST00000383032.5:c.-140+4942C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372499.1:n.-140+4942C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 508,
          "endIntronDirection": "+",
          "endIntronOffset": 4942,
          "referenceAllele": "C",
          "start": 508,
          "startIntronDirection": "+",
          "startIntronOffset": 4941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018502",
      "geneNCBI_id": 90665,
      "geneSymbol": "TBL1Y",
      "hgvs": [
        "NM_033284.1:c.-140+4942C="
      ],
      "proteinEffect": {
        "hgvs": "NP_150600.1:n.-140+4942C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039653"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 477,
          "endIntronDirection": "+",
          "endIntronOffset": 4942,
          "referenceAllele": "C",
          "start": 477,
          "startIntronDirection": "+",
          "startIntronOffset": 4941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018502",
      "geneNCBI_id": 90665,
      "geneSymbol": "TBL1Y",
      "hgvs": [
        "NM_134258.1:c.-140+4942C="
      ],
      "proteinEffect": {
        "hgvs": "NP_599020.1:n.-140+4942C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040582"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 413,
          "endIntronDirection": "-",
          "endIntronOffset": 20608,
          "referenceAllele": "C",
          "start": 413,
          "startIntronDirection": "-",
          "startIntronOffset": 20609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018502",
      "geneNCBI_id": 90665,
      "geneSymbol": "TBL1Y",
      "hgvs": [
        "NM_134259.1:c.-139-20609C="
      ],
      "proteinEffect": {
        "hgvs": "NP_599021.1:n.-139-20609C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 497,
          "endIntronDirection": "+",
          "endIntronOffset": 4942,
          "referenceAllele": "C",
          "start": 497,
          "startIntronDirection": "+",
          "startIntronOffset": 4941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018502",
      "geneNCBI_id": 90665,
      "geneSymbol": "TBL1Y",
      "hgvs": [
        "XM_017030086.1:c.-140+4942C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016885575.1:n.-140+4942C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579547"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 497,
          "endIntronDirection": "+",
          "endIntronOffset": 4942,
          "referenceAllele": "C",
          "start": 497,
          "startIntronDirection": "+",
          "startIntronOffset": 4941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018502",
      "geneNCBI_id": 90665,
      "geneSymbol": "TBL1Y",
      "hgvs": [
        "XM_017030087.1:c.-140+4942C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016885576.1:n.-140+4942C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579548"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1721,
          "endIntronDirection": "+",
          "endIntronOffset": 4942,
          "referenceAllele": "C",
          "start": 1721,
          "startIntronDirection": "+",
          "startIntronOffset": 4941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018502",
      "geneNCBI_id": 90665,
      "geneSymbol": "TBL1Y",
      "hgvs": [
        "XM_024452497.1:c.-140+4942C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308265.1:n.-140+4942C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585988"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 497,
          "endIntronDirection": "+",
          "endIntronOffset": 4942,
          "referenceAllele": "C",
          "start": 497,
          "startIntronDirection": "+",
          "startIntronOffset": 4941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018502",
      "geneNCBI_id": 90665,
      "geneSymbol": "TBL1Y",
      "hgvs": [
        "NM_033284.2:c.-140+4942C="
      ],
      "proteinEffect": {
        "hgvs": "NP_150600.1:n.-140+4942C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699320",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000383032.6:c.-140+4942C="
          },
          "RefSeq": {
            "hgvs": "NM_033284.2:c.-140+4942C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372499.1:n.-140+4942C="
          },
          "RefSeq": {
            "hgvs": "NP_150600.1:n.-140+4942C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 466,
          "endIntronDirection": "+",
          "endIntronOffset": 4942,
          "referenceAllele": "C",
          "start": 466,
          "startIntronDirection": "+",
          "startIntronOffset": 4941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018502",
      "geneNCBI_id": 90665,
      "geneSymbol": "TBL1Y",
      "hgvs": [
        "NM_134258.2:c.-140+4942C="
      ],
      "proteinEffect": {
        "hgvs": "NP_599020.1:n.-140+4942C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 402,
          "endIntronDirection": "-",
          "endIntronOffset": 20608,
          "referenceAllele": "C",
          "start": 402,
          "startIntronDirection": "-",
          "startIntronOffset": 20609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018502",
      "geneNCBI_id": 90665,
      "geneSymbol": "TBL1Y",
      "hgvs": [
        "NM_134259.2:c.-139-20609C="
      ],
      "proteinEffect": {
        "hgvs": "NP_599021.1:n.-139-20609C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729122"
    }
  ],
  "type": "nucleotide"
}