{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388213528",
  "communityStandardTitle": [
    "NM_012141.3(INTS6):c.2476+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4017064[alleleid]",
        "alleleId": 4017064,
        "preferredName": "NM_012141.3(INTS6):c.2476+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3901220",
        "RCV": [
          "RCV005416211"
        ],
        "variationId": 3901220
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51943074C>T?assembly=hg19",
        "id": "chr13:g.51943074C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51368938C>T?assembly=hg38",
        "id": "chr13:g.51368938C>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 51368938,
          "referenceAllele": "C",
          "start": 51368937
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51368938C>T",
        "CM000675.2:g.51368938C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 51943074,
          "referenceAllele": "C",
          "start": 51943073
        }
      ],
      "hgvs": [
        "NC_000013.10:g.51943074C>T",
        "CM000675.1:g.51943074C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 50841075,
          "referenceAllele": "C",
          "start": 50841074
        }
      ],
      "hgvs": [
        "NC_000013.9:g.50841075C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2987,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2987,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "ENST00000311234.9:c.2476+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310260.4:n.2476+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745701",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311234.9:c.2476+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_012141.3:c.2476+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310260.4:n.2476+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_036273.1:n.2476+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2949,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2949,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "ENST00000311234.8:c.2476+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310260.4:n.2476+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2666,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2666,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "ENST00000398119.6:c.2437+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381187.2:n.2437+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3026,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3026,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "ENST00000469430.5:c.*2304+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417442.1:n.*2304+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS312114"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 193,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 193,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "ENST00000476666.5:n.193+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317662"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2532,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2532,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "ENST00000483441.5:n.2532+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322911"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2103,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2103,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "ENST00000490542.5:c.1528+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419984.1:n.1528+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328338"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2310,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2310,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "ENST00000497989.5:c.1942+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419871.1:n.1942+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334094"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2598,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2598,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "NM_001039937.1:c.2437+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035026.1:n.2437+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3374,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3374,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "NM_001306091.1:c.1942+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293020.1:n.1942+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3090,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3090,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "NM_012141.2:c.2476+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036273.1:n.2476+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3092,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3092,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "XM_005266341.2:c.1180+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266398.1:n.1180+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3187,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3187,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "XM_011535040.1:c.2476+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533342.1:n.2476+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3003,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3003,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "XM_011535041.1:c.1834+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533343.1:n.1834+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2643,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2643,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "XM_011535040.3:c.2476+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533342.1:n.2476+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551887"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3100,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3100,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "XM_011535041.2:c.1834+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533343.1:n.1834+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2548,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2548,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "XM_017020540.2:c.1180+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876029.1:n.1180+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2987,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2987,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "NM_012141.3:c.2476+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036273.1:n.2476+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667915",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311234.9:c.2476+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_012141.3:c.2476+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310260.4:n.2476+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_036273.1:n.2476+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2495,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2495,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "NM_001039937.2:c.2437+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035026.1:n.2437+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3271,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3271,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014879",
      "geneNCBI_id": 26512,
      "geneSymbol": "INTS6",
      "hgvs": [
        "NM_001306091.2:c.1942+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293020.1:n.1942+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683850"
    }
  ],
  "type": "nucleotide"
}