{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399983758",
  "communityStandardTitle": [
    "NM_015443.4(KANSL1):c.2020+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2230570[alleleid]",
        "alleleId": 2230570,
        "preferredName": "NM_015443.4(KANSL1):c.2020+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2232486",
        "RCV": [
          "RCV002728122",
          "RCV003326022"
        ],
        "variationId": 2232486
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44127898C>T?assembly=hg19",
        "id": "chr17:g.44127898C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.46050532C>T?assembly=hg38",
        "id": "chr17:g.46050532C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2510648438",
        "rs": 2510648438
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 46050532,
          "referenceAllele": "C",
          "start": 46050531
        }
      ],
      "hgvs": [
        "NC_000017.11:g.46050532C>T",
        "CM000679.2:g.46050532C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 44127898,
          "referenceAllele": "C",
          "start": 44127897
        }
      ],
      "hgvs": [
        "NC_000017.10:g.44127898C>T",
        "CM000679.1:g.44127898C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 41483750,
          "referenceAllele": "C",
          "start": 41483749
        }
      ],
      "hgvs": [
        "NC_000017.9:g.41483750C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 179843,
          "referenceAllele": "G",
          "start": 179842
        }
      ],
      "hgvs": [
        "NG_032784.1:g.179843G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005220"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2716,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2716,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000432791.7:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387393.3:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755424",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432791.7:c.2020+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015443.4:c.2020+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387393.3:n.2020+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_056258.1:n.2020+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2261,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2261,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000571698.2:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459330.2:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2115,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2115,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572904.6:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461484.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2292,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2292,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574590.6:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461812.2:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2270,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2270,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000575318.6:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461299.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2687,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2687,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000638275.1:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492576.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764443"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 998,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 998,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639150.1:c.754+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491906.1:n.754+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2259,
          "referenceAllele": "G",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639375.1:n.2259G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2060,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2060,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639531.1:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491765.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1191,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1191,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639853.1:c.1191+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 162,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 162,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000640636.1:c.162+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2276,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2276,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000648792.1:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497628.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2491,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2491,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000262419.10:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262419.6:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2277,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2277,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000432791.5:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387393.2:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2193,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2193,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572904.5:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461484.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2247,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2247,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574590.5:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461812.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2054,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2054,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000575318.5:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461299.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 818,
          "referenceAllele": "G",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000577114.1:n.818G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2277,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2277,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193465.1:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180394.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2491,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2491,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193466.1:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180395.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2193,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2193,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_015443.3:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056258.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2277,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2277,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721823.1:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721886.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2468,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2468,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721824.2:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721887.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2468,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2468,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524628.1:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522930.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2366,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2366,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524629.1:c.1918+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522931.1:n.1918+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2468,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2468,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524630.1:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522932.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2468,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2468,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524631.1:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522933.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091752"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 874,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 874,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524632.1:c.790+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522934.1:n.790+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2273,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2273,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721823.2:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721886.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2586,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2586,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721824.4:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721887.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2586,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2586,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524628.3:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522930.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2484,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2484,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524629.3:c.1918+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522931.1:n.1918+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2586,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2586,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524630.3:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522932.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2586,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2586,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524631.3:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522933.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 890,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 890,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524632.3:c.790+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522934.1:n.790+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2273,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2273,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_017024488.2:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879977.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2286,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2286,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_017024489.1:c.1918+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879978.1:n.1918+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2473,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2473,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193466.2:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180395.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2716,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2716,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_015443.4:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056258.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697543",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432791.7:c.2020+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015443.4:c.2020+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387393.3:n.2020+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_056258.1:n.2020+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2270,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2270,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193465.2:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180394.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2270,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2270,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001379198.1:c.2020+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366127.1:n.2020+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721930"
    }
  ],
  "type": "nucleotide"
}