{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA335110010",
  "communityStandardTitle": [
    "NM_001555.5(IGSF1):c.2608+116A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1220744[alleleid]",
        "alleleId": 1220744,
        "preferredName": "NM_001555.5(IGSF1):c.2608+116A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1229489",
        "RCV": [
          "RCV001609729"
        ],
        "variationId": 1229489
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.130410797T>C?assembly=hg19",
        "id": "chrX:g.130410797T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.131276823T>C?assembly=hg38",
        "id": "chrX:g.131276823T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/17276763",
        "rs": 17276763
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-130410797-T-C?dataset=gnomad_r2_1",
        "id": "X-130410797-T-C",
        "variant": "X:130410797 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-131276823-T-C?dataset=gnomad_r3",
        "id": "X-131276823-T-C",
        "variant": "X:131276823 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-131276823-T-C?dataset=gnomad_r4",
        "id": "X-131276823-T-C",
        "variant": "X:131276823 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 131276823,
          "referenceAllele": "T",
          "start": 131276822
        }
      ],
      "hgvs": [
        "NC_000023.11:g.131276823T>C",
        "CM000685.2:g.131276823T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 130410797,
          "referenceAllele": "T",
          "start": 130410796
        }
      ],
      "hgvs": [
        "NC_000023.10:g.130410797T>C",
        "CM000685.1:g.130410797T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 130238478,
          "referenceAllele": "T",
          "start": 130238477
        }
      ],
      "hgvs": [
        "NC_000023.9:g.130238478T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 127881,
          "referenceAllele": "A",
          "start": 127880
        }
      ],
      "hgvs": [
        "NG_021190.2:g.127881A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003469"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 307077,
          "referenceAllele": "A",
          "start": 307076
        }
      ],
      "hgvs": [
        "NG_021190.3:g.307077A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 307077,
          "referenceAllele": "A",
          "start": 307076
        }
      ],
      "hgvs": [
        "NG_021190.4:g.307077A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733347"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2768,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2768,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "ENST00000361420.8:c.2608+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355010.3:n.2608+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749464",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361420.8:c.2608+116A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001555.5:c.2608+116A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355010.3:n.2608+116A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001546.2:n.2608+116A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2783,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2783,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "ENST00000370903.8:c.2623+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359940.3:n.2623+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750695"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9,
          "endIntronDirection": "-",
          "endIntronOffset": 1945,
          "referenceAllele": "A",
          "start": 9,
          "startIntronDirection": "-",
          "startIntronOffset": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "ENST00000651402.1:c.10-1946A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1010,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 1010,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "ENST00000651526.1:n.1010+116A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771715"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2791,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2791,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "ENST00000651556.1:c.2608+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498789.1:n.2608+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2789,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2789,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "ENST00000652189.1:c.2608+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498607.1:n.2608+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2688,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2688,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "ENST00000361420.7:c.2608+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355010.3:n.2608+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2906,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2906,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "ENST00000370903.7:c.2623+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359940.3:n.2623+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3725,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 3725,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "ENST00000370904.6:c.2581+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359941.1:n.2581+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2713,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2713,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "ENST00000370910.5:c.2581+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359947.1:n.2581+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 579,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 579,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "ENST00000467244.1:n.579+116A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2906,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2906,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "NM_001170961.1:c.2623+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001164432.1:n.2623+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015267"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2864,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2864,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "NM_001170962.1:c.2581+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001164433.1:n.2581+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015268"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2891,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2891,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "NM_001555.4:c.2608+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001546.2:n.2608+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026924"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2804,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2804,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "XM_011531330.1:c.2623+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529632.1:n.2623+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2734,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2734,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "XM_011531331.1:c.2623+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529633.1:n.2623+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2906,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2906,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "XM_011531332.1:c.2623+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529634.1:n.2623+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2906,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2906,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "XM_011531333.1:c.2623+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529635.1:n.2623+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098369"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2906,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2906,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "XM_011531334.1:c.2623+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529636.1:n.2623+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098370"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1010,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 1010,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "XM_011531335.1:c.850+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529637.1:n.850+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098371"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2780,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2780,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "XM_011531333.2:c.2623+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529635.1:n.2623+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550333"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2780,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2780,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "XM_011531334.2:c.2623+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529636.1:n.2623+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550334"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2768,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2768,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "NM_001555.5:c.2608+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001546.2:n.2608+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665045",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361420.8:c.2608+116A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001555.5:c.2608+116A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355010.3:n.2608+116A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001546.2:n.2608+116A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2741,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2741,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "NM_001170962.2:c.2581+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001164433.1:n.2581+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678669"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2783,
          "endIntronDirection": "+",
          "endIntronOffset": 116,
          "referenceAllele": "A",
          "start": 2783,
          "startIntronDirection": "+",
          "startIntronOffset": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005948",
      "geneNCBI_id": 3547,
      "geneSymbol": "IGSF1",
      "hgvs": [
        "NM_001170961.2:c.2623+116A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001164432.1:n.2623+116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713351"
    }
  ],
  "type": "nucleotide"
}