{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA915947555",
  "communityStandardTitle": [
    "NM_016169.4(SUFU):c.597+5G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=815422[alleleid]",
        "alleleId": 815422,
        "preferredName": "NM_016169.4(SUFU):c.597+5G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/826086",
        "RCV": [
          "RCV001024736",
          "RCV002067678"
        ],
        "variationId": 826086
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1590062007",
        "rs": 1590062007
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-102592729-G-A?dataset=gnomad_r4",
        "id": "10-102592729-G-A",
        "variant": "10:102592729 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 102592729,
          "referenceAllele": "G",
          "start": 102592728
        }
      ],
      "hgvs": [
        "NC_000010.11:g.102592729G>A",
        "CM000672.2:g.102592729G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 104352486,
          "referenceAllele": "G",
          "start": 104352485
        }
      ],
      "hgvs": [
        "NC_000010.10:g.104352486G>A",
        "CM000672.1:g.104352486G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 104342476,
          "referenceAllele": "G",
          "start": 104342475
        }
      ],
      "hgvs": [
        "NC_000010.9:g.104342476G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 93768,
          "referenceAllele": "G",
          "start": 93767
        }
      ],
      "hgvs": [
        "NG_021338.1:g.93768G>A",
        "LRG_521:g.93768G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003579"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 778,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 778,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000369902.8:c.597+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358918.4:n.597+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750502",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369902.8:c.597+5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_016169.4:c.597+5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358918.4:n.597+5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_057253.2:n.597+5G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 743,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 743,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000369899.6:c.597+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358915.2:n.597+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 763,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 763,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000369902.7:c.597+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358918.3:n.597+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267763"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 671,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 671,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000423559.2:c.597+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411597.2:n.597+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287820"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 379,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 379,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000471000.1:n.379+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 788,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_001178133.1:c.597+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171604.1:n.597+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 788,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_016169.3:c.597+5G>A",
        "LRG_521t1:c.597+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057253.2:n.597+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 788,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539858.1:c.597+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538160.1:n.597+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 713,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 713,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539859.1:c.597+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538161.1:n.597+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106809"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 788,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539860.1:c.597+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538162.1:n.597+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 624,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 624,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539861.1:c.597+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538163.1:n.597+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 642,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 642,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539862.1:c.519+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538164.1:n.519+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 528,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539863.1:c.423+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538165.1:n.423+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 625,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 625,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539864.1:c.597+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538166.1:n.597+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 778,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 778,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539858.3:c.597+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538160.1:n.597+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 778,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 778,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539860.3:c.597+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538162.1:n.597+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 778,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 778,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539861.3:c.597+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538163.1:n.597+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 601,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 601,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539863.3:c.423+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538165.1:n.423+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 778,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 778,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539864.3:c.597+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538166.1:n.597+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1018,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1018,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_017016323.1:c.519+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871812.1:n.519+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568792"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 778,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 778,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_001178133.2:c.597+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171604.1:n.597+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 778,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 778,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_016169.4:c.597+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057253.2:n.597+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369902.8:c.597+5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_016169.4:c.597+5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358918.4:n.597+5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_057253.2:n.597+5G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}