{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2360293376",
  "communityStandardTitle": [
    "NM_015338.6(ASXL1):c.2989G= (p.Glu997=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786205552",
        "rs": 786205552
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 32435701,
          "referenceAllele": "G",
          "start": 32435700
        }
      ],
      "hgvs": [
        "NC_000020.11:g.32435701G=",
        "CM000682.2:g.32435701G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 31023504,
          "referenceAllele": "G",
          "start": 31023503
        }
      ],
      "hgvs": [
        "NC_000020.10:g.31023504G=",
        "CM000682.1:g.31023504G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 30487165,
          "referenceAllele": "G",
          "start": 30487164
        }
      ],
      "hgvs": [
        "NC_000020.9:g.30487165G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 82358,
          "referenceAllele": "G",
          "start": 82357
        }
      ],
      "hgvs": [
        "NG_027868.1:g.82358G=",
        "LRG_630:g.82358G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003997"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3434,
          "referenceAllele": "G",
          "start": 3433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "ENST00000375687.10:c.2989G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364839.4:p.Glu997="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751652",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375687.10:c.2989G="
          },
          "RefSeq": {
            "hgvs": "NM_015338.6:c.2989G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364839.4:p.Glu997="
          },
          "RefSeq": {
            "hgvs": "NP_056153.2:p.Glu997="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3049,
          "referenceAllele": "G",
          "start": 3048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "ENST00000646985.1:c.2806G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495053.1:p.Glu936="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5342,
          "referenceAllele": "G",
          "start": 5341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "ENST00000647223.1:n.5342G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769293"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2315,
          "endIntronDirection": "+",
          "endIntronOffset": 1120,
          "referenceAllele": "G",
          "start": 2315,
          "startIntronDirection": "+",
          "startIntronOffset": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "ENST00000651418.1:c.1869+1120G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499150.1:n.1869+1120G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771655"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2974,
          "referenceAllele": "G",
          "start": 2973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "ENST00000306058.9:c.2974G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305119.5:p.Glu992="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3413,
          "referenceAllele": "G",
          "start": 3412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "ENST00000375687.8:c.2989G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364839.4:p.Glu997="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3421,
          "referenceAllele": "G",
          "start": 3420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "ENST00000613218.4:c.2989G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480487.1:p.Glu997="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3184,
          "referenceAllele": "G",
          "start": 3183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "ENST00000620121.4:c.2989G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481978.1:p.Glu997="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404683"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087916091",
      "coordinates": [
        {
          "allele": "G",
          "end": 3421,
          "referenceAllele": "G",
          "start": 3420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "NM_015338.5:c.2989G=",
        "LRG_630t1:c.2989G="
      ],
      "proteinEffect": {
        "hgvs": "NP_056153.2:p.Glu997="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033938"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3053,
          "referenceAllele": "G",
          "start": 3052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_006723727.2:c.2986G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723790.1:p.Glu996="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3030,
          "referenceAllele": "G",
          "start": 3029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_006723728.2:c.2959G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723791.1:p.Glu987="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3227,
          "referenceAllele": "G",
          "start": 3226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_006723730.2:c.2905G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723793.1:p.Glu969="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3049,
          "referenceAllele": "G",
          "start": 3048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_006723732.2:c.2806G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723795.1:p.Glu936="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075179"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3055,
          "referenceAllele": "G",
          "start": 3054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_006723733.1:c.2305G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723796.1:p.Glu769="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075180"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3285,
          "referenceAllele": "G",
          "start": 3284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_011528647.1:c.3253G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526949.1:p.Glu1085="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3282,
          "referenceAllele": "G",
          "start": 3281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_011528648.1:c.3250G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526950.1:p.Glu1084="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3201,
          "referenceAllele": "G",
          "start": 3200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_011528649.1:c.3169G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526951.1:p.Glu1057="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095720"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3132,
          "referenceAllele": "G",
          "start": 3131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_011528650.1:c.3100G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526952.1:p.Glu1034="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2993,
          "referenceAllele": "G",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_011528651.1:c.2968G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526953.1:p.Glu990="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095722"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3748,
          "referenceAllele": "G",
          "start": 3747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_011528652.1:c.2905G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526954.1:p.Glu969="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3049,
          "referenceAllele": "G",
          "start": 3048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "NM_001363734.1:c.2806G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350663.1:p.Glu936="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523517"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3700,
          "referenceAllele": "G",
          "start": 3699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_006723727.3:c.2986G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723790.1:p.Glu996="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540813"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3030,
          "referenceAllele": "G",
          "start": 3029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_006723728.3:c.2959G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723791.1:p.Glu987="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540814"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3338,
          "referenceAllele": "G",
          "start": 3337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_006723730.4:c.2905G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723793.1:p.Glu969="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540815"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3265,
          "referenceAllele": "G",
          "start": 3264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_011528648.3:c.3250G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526950.1:p.Glu1084="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549199"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4363,
          "referenceAllele": "G",
          "start": 4362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_011528652.2:c.2905G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526954.1:p.Glu969="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549200"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4486,
          "referenceAllele": "G",
          "start": 4485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_017027704.1:c.2905G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883193.1:p.Glu969="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3499,
          "referenceAllele": "G",
          "start": 3498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_017027705.1:c.2905G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883194.1:p.Glu969="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3550,
          "referenceAllele": "G",
          "start": 3549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "XM_017027706.1:c.2836G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883195.1:p.Glu946="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577608"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087916091",
      "coordinates": [
        {
          "allele": "G",
          "end": 3434,
          "referenceAllele": "G",
          "start": 3433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "NM_015338.6:c.2989G="
      ],
      "proteinEffect": {
        "hgvs": "NP_056153.2:p.Glu997="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697514",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375687.10:c.2989G="
          },
          "RefSeq": {
            "hgvs": "NM_015338.6:c.2989G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364839.4:p.Glu997="
          },
          "RefSeq": {
            "hgvs": "NP_056153.2:p.Glu997="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}