{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399986478",
  "communityStandardTitle": [
    "NM_015443.4(KANSL1):c.1775G>A (p.Arg592Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1383847",
        "active": true,
        "id": "COSM1383847"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2670849[alleleid]",
        "alleleId": 2670849,
        "preferredName": "NM_015443.4(KANSL1):c.1775G>A (p.Arg592Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2505885",
        "RCV": [
          "RCV003236117",
          "RCV004556097"
        ],
        "variationId": 2505885
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44143976C>T?assembly=hg19",
        "id": "chr17:g.44143976C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.46066610C>T?assembly=hg38",
        "id": "chr17:g.46066610C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2510757518",
        "rs": 2510757518
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 46066610,
          "referenceAllele": "C",
          "start": 46066609
        }
      ],
      "hgvs": [
        "NC_000017.11:g.46066610C>T",
        "CM000679.2:g.46066610C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 44143976,
          "referenceAllele": "C",
          "start": 44143975
        }
      ],
      "hgvs": [
        "NC_000017.10:g.44143976C>T",
        "CM000679.1:g.44143976C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 41499798,
          "referenceAllele": "C",
          "start": 41499797
        }
      ],
      "hgvs": [
        "NC_000017.9:g.41499798C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163765,
          "referenceAllele": "G",
          "start": 163764
        }
      ],
      "hgvs": [
        "NG_032784.1:g.163765G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005220"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2471,
          "referenceAllele": "G",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000432791.7:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387393.3:p.Arg592Gln",
        "hgvsWellDefined": "ENSP00000387393.3:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755424",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432791.7:c.1775G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015443.4:c.1775G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387393.3:p.Arg592Gln"
          },
          "RefSeq": {
            "hgvs": "NP_056258.1:p.Arg592Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2016,
          "referenceAllele": "G",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000571698.2:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459330.2:p.Arg592Gln",
        "hgvsWellDefined": "ENSP00000459330.2:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1870,
          "referenceAllele": "G",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572904.6:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461484.1:p.Arg592Gln",
        "hgvsWellDefined": "ENSP00000461484.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2047,
          "referenceAllele": "G",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574590.6:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461812.2:p.Arg592Gln",
        "hgvsWellDefined": "ENSP00000461812.2:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2025,
          "referenceAllele": "G",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000575318.6:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461299.1:p.Arg592Gln",
        "hgvsWellDefined": "ENSP00000461299.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 501,
          "referenceAllele": "G",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000577114.2:n.501G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760804"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2442,
          "referenceAllele": "G",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000638275.1:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492576.1:p.Arg592Gln",
        "hgvsWellDefined": "ENSP00000492576.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764443"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 753,
          "referenceAllele": "G",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639150.1:c.509G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491906.1:p.Arg170Gln",
        "hgvsWellDefined": "ENSP00000491906.1:p.Arg170Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2013,
          "referenceAllele": "G",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639375.1:n.2013G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1815,
          "referenceAllele": "G",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639531.1:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491765.1:p.Arg592Gln",
        "hgvsWellDefined": "ENSP00000491765.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639853.1:c.946G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2031,
          "referenceAllele": "G",
          "start": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000648792.1:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497628.1:p.Arg592Gln",
        "hgvsWellDefined": "ENSP00000497628.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2246,
          "referenceAllele": "G",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000262419.10:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262419.6:p.Arg592Gln",
        "hgvsWellDefined": "ENSP00000262419.6:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2032,
          "referenceAllele": "G",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000432791.5:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387393.2:p.Arg592Gln",
        "hgvsWellDefined": "ENSP00000387393.2:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1948,
          "referenceAllele": "G",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572904.5:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461484.1:p.Arg592Gln",
        "hgvsWellDefined": "ENSP00000461484.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2002,
          "referenceAllele": "G",
          "start": 2001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574590.5:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461812.1:p.Arg592Gln",
        "hgvsWellDefined": "ENSP00000461812.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1809,
          "referenceAllele": "G",
          "start": 1808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000575318.5:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461299.1:p.Arg592Gln",
        "hgvsWellDefined": "ENSP00000461299.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 572,
          "referenceAllele": "G",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000577114.1:n.572G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826185289",
      "coordinates": [
        {
          "allele": "A",
          "end": 2032,
          "referenceAllele": "G",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193465.1:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180394.1:p.Arg592Gln",
        "hgvsWellDefined": "NP_001180394.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826186035",
      "coordinates": [
        {
          "allele": "A",
          "end": 2246,
          "referenceAllele": "G",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193466.1:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180395.1:p.Arg592Gln",
        "hgvsWellDefined": "NP_001180395.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741952219",
      "coordinates": [
        {
          "allele": "A",
          "end": 1948,
          "referenceAllele": "G",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_015443.3:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056258.1:p.Arg592Gln",
        "hgvsWellDefined": "NP_056258.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2032,
          "referenceAllele": "G",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721823.1:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721886.1:p.Arg592Gln",
        "hgvsWellDefined": "XP_006721886.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2223,
          "referenceAllele": "G",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721824.2:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721887.1:p.Arg592Gln",
        "hgvsWellDefined": "XP_006721887.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2223,
          "referenceAllele": "G",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524628.1:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522930.1:p.Arg592Gln",
        "hgvsWellDefined": "XP_011522930.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2121,
          "referenceAllele": "G",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524629.1:c.1673G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522931.1:p.Arg558Gln",
        "hgvsWellDefined": "XP_011522931.1:p.Arg558Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2223,
          "referenceAllele": "G",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524630.1:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522932.1:p.Arg592Gln",
        "hgvsWellDefined": "XP_011522932.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2223,
          "referenceAllele": "G",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524631.1:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522933.1:p.Arg592Gln",
        "hgvsWellDefined": "XP_011522933.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091752"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 629,
          "referenceAllele": "G",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524632.1:c.545G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522934.1:p.Arg182Gln",
        "hgvsWellDefined": "XP_011522934.1:p.Arg182Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2028,
          "referenceAllele": "G",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721823.2:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721886.1:p.Arg592Gln",
        "hgvsWellDefined": "XP_006721886.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2341,
          "referenceAllele": "G",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721824.4:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721887.1:p.Arg592Gln",
        "hgvsWellDefined": "XP_006721887.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2341,
          "referenceAllele": "G",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524628.3:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522930.1:p.Arg592Gln",
        "hgvsWellDefined": "XP_011522930.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2239,
          "referenceAllele": "G",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524629.3:c.1673G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522931.1:p.Arg558Gln",
        "hgvsWellDefined": "XP_011522931.1:p.Arg558Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2341,
          "referenceAllele": "G",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524630.3:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522932.1:p.Arg592Gln",
        "hgvsWellDefined": "XP_011522932.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2341,
          "referenceAllele": "G",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524631.3:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522933.1:p.Arg592Gln",
        "hgvsWellDefined": "XP_011522933.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524632.3:c.545G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522934.1:p.Arg182Gln",
        "hgvsWellDefined": "XP_011522934.1:p.Arg182Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2028,
          "referenceAllele": "G",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_017024488.2:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879977.1:p.Arg592Gln",
        "hgvsWellDefined": "XP_016879977.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2041,
          "referenceAllele": "G",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_017024489.1:c.1673G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879978.1:p.Arg558Gln",
        "hgvsWellDefined": "XP_016879978.1:p.Arg558Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826186035",
      "coordinates": [
        {
          "allele": "A",
          "end": 2228,
          "referenceAllele": "G",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193466.2:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180395.1:p.Arg592Gln",
        "hgvsWellDefined": "NP_001180395.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741952219",
      "coordinates": [
        {
          "allele": "A",
          "end": 2471,
          "referenceAllele": "G",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_015443.4:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056258.1:p.Arg592Gln",
        "hgvsWellDefined": "NP_056258.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697543",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432791.7:c.1775G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015443.4:c.1775G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387393.3:p.Arg592Gln"
          },
          "RefSeq": {
            "hgvs": "NP_056258.1:p.Arg592Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826185289",
      "coordinates": [
        {
          "allele": "A",
          "end": 2025,
          "referenceAllele": "G",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193465.2:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180394.1:p.Arg592Gln",
        "hgvsWellDefined": "NP_001180394.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828815098",
      "coordinates": [
        {
          "allele": "A",
          "end": 2025,
          "referenceAllele": "G",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001379198.1:c.1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366127.1:p.Arg592Gln",
        "hgvsWellDefined": "NP_001366127.1:p.Arg592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721930"
    }
  ],
  "type": "nucleotide"
}