{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399980390",
  "communityStandardTitle": [
    "NM_015443.4(KANSL1):c.2458A>G (p.Ser820Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2405581[alleleid]",
        "alleleId": 2405581,
        "preferredName": "NM_015443.4(KANSL1):c.2458A>G (p.Ser820Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2432952",
        "RCV": [
          "RCV003131296"
        ],
        "variationId": 2432952
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44115987T>C?assembly=hg19",
        "id": "chr17:g.44115987T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.46038621T>C?assembly=hg38",
        "id": "chr17:g.46038621T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1355589929",
        "rs": 1355589929
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44115987-T-C?dataset=gnomad_r2_1",
        "id": "17-44115987-T-C",
        "variant": "17:44115987 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-46038621-T-C?dataset=gnomad_r4",
        "id": "17-46038621-T-C",
        "variant": "17:46038621 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 46038621,
          "referenceAllele": "T",
          "start": 46038620
        }
      ],
      "hgvs": [
        "NC_000017.11:g.46038621T>C",
        "CM000679.2:g.46038621T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 44115987,
          "referenceAllele": "T",
          "start": 44115986
        }
      ],
      "hgvs": [
        "NC_000017.10:g.44115987T>C",
        "CM000679.1:g.44115987T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 41471834,
          "referenceAllele": "T",
          "start": 41471833
        }
      ],
      "hgvs": [
        "NC_000017.9:g.41471834T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 191754,
          "referenceAllele": "A",
          "start": 191753
        }
      ],
      "hgvs": [
        "NG_032784.1:g.191754A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005220"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3154,
          "referenceAllele": "A",
          "start": 3153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000432791.7:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387393.3:p.Ser820Gly",
        "hgvsWellDefined": "ENSP00000387393.3:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755424",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432791.7:c.2458A>G"
          },
          "RefSeq": {
            "hgvs": "NM_015443.4:c.2458A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387393.3:p.Ser820Gly"
          },
          "RefSeq": {
            "hgvs": "NP_056258.1:p.Ser820Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2553,
          "referenceAllele": "A",
          "start": 2552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572904.6:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461484.1:p.Ser820Gly",
        "hgvsWellDefined": "ENSP00000461484.1:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4141,
          "referenceAllele": "A",
          "start": 4140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000573286.2:n.4141A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760709"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2730,
          "referenceAllele": "A",
          "start": 2729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574590.6:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461812.2:p.Ser820Gly",
        "hgvsWellDefined": "ENSP00000461812.2:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2519,
          "referenceAllele": "A",
          "start": 2518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000575318.6:c.2269A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461299.1:p.Ser757Gly",
        "hgvsWellDefined": "ENSP00000461299.1:p.Ser757Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760759"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 455,
          "referenceAllele": "A",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000576137.2:n.455A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2936,
          "referenceAllele": "A",
          "start": 2935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000638275.1:c.2269A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492576.1:p.Ser757Gly",
        "hgvsWellDefined": "ENSP00000492576.1:p.Ser757Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764443"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1436,
          "referenceAllele": "A",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639150.1:c.1192A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491906.1:p.Ser398Gly",
        "hgvsWellDefined": "ENSP00000491906.1:p.Ser398Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 121,
          "referenceAllele": "A",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639467.1:c.121A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492741.1:p.Ser41Gly",
        "hgvsWellDefined": "ENSP00000492741.1:p.Ser41Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2309,
          "referenceAllele": "A",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639531.1:c.2269A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491765.1:p.Ser757Gly",
        "hgvsWellDefined": "ENSP00000491765.1:p.Ser757Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 411,
          "referenceAllele": "A",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000640636.1:c.411A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765594"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2714,
          "referenceAllele": "A",
          "start": 2713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000648792.1:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497628.1:p.Ser820Gly",
        "hgvsWellDefined": "ENSP00000497628.1:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2929,
          "referenceAllele": "A",
          "start": 2928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000262419.10:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262419.6:p.Ser820Gly",
        "hgvsWellDefined": "ENSP00000262419.6:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2715,
          "referenceAllele": "A",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000432791.5:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387393.2:p.Ser820Gly",
        "hgvsWellDefined": "ENSP00000387393.2:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292241"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6675,
          "referenceAllele": "A",
          "start": 6674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572218.5:n.6675A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2631,
          "referenceAllele": "A",
          "start": 2630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572904.5:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461484.1:p.Ser820Gly",
        "hgvsWellDefined": "ENSP00000461484.1:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383091"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 314,
          "referenceAllele": "A",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000573286.1:n.314A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2685,
          "referenceAllele": "A",
          "start": 2684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574590.5:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461812.1:p.Ser820Gly",
        "hgvsWellDefined": "ENSP00000461812.1:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2303,
          "referenceAllele": "A",
          "start": 2302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000575318.5:c.2269A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461299.1:p.Ser757Gly",
        "hgvsWellDefined": "ENSP00000461299.1:p.Ser757Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384072"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 97,
          "referenceAllele": "A",
          "start": 96
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000576137.1:n.97A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 430,
          "referenceAllele": "A",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000576870.5:n.430A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826185462",
      "coordinates": [
        {
          "allele": "G",
          "end": 2715,
          "referenceAllele": "A",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193465.1:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180394.1:p.Ser820Gly",
        "hgvsWellDefined": "NP_001180394.1:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826186166",
      "coordinates": [
        {
          "allele": "G",
          "end": 2929,
          "referenceAllele": "A",
          "start": 2928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193466.1:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180395.1:p.Ser820Gly",
        "hgvsWellDefined": "NP_001180395.1:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580396225",
      "coordinates": [
        {
          "allele": "G",
          "end": 2631,
          "referenceAllele": "A",
          "start": 2630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_015443.3:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056258.1:p.Ser820Gly",
        "hgvsWellDefined": "NP_056258.1:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2715,
          "referenceAllele": "A",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721823.1:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721886.1:p.Ser820Gly",
        "hgvsWellDefined": "XP_006721886.1:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074271"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2906,
          "referenceAllele": "A",
          "start": 2905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721824.2:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721887.1:p.Ser820Gly",
        "hgvsWellDefined": "XP_006721887.1:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2906,
          "referenceAllele": "A",
          "start": 2905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524628.1:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522930.1:p.Ser820Gly",
        "hgvsWellDefined": "XP_011522930.1:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091749"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2804,
          "referenceAllele": "A",
          "start": 2803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524629.1:c.2356A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522931.1:p.Ser786Gly",
        "hgvsWellDefined": "XP_011522931.1:p.Ser786Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2717,
          "referenceAllele": "A",
          "start": 2716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524630.1:c.2269A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522932.1:p.Ser757Gly",
        "hgvsWellDefined": "XP_011522932.1:p.Ser757Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091751"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2717,
          "referenceAllele": "A",
          "start": 2716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524631.1:c.2269A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522933.1:p.Ser757Gly",
        "hgvsWellDefined": "XP_011522933.1:p.Ser757Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091752"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1312,
          "referenceAllele": "A",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524632.1:c.1228A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522934.1:p.Ser410Gly",
        "hgvsWellDefined": "XP_011522934.1:p.Ser410Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091753"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2711,
          "referenceAllele": "A",
          "start": 2710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721823.2:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721886.1:p.Ser820Gly",
        "hgvsWellDefined": "XP_006721886.1:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3024,
          "referenceAllele": "A",
          "start": 3023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721824.4:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721887.1:p.Ser820Gly",
        "hgvsWellDefined": "XP_006721887.1:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3024,
          "referenceAllele": "A",
          "start": 3023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524628.3:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522930.1:p.Ser820Gly",
        "hgvsWellDefined": "XP_011522930.1:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2922,
          "referenceAllele": "A",
          "start": 2921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524629.3:c.2356A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522931.1:p.Ser786Gly",
        "hgvsWellDefined": "XP_011522931.1:p.Ser786Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2835,
          "referenceAllele": "A",
          "start": 2834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524630.3:c.2269A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522932.1:p.Ser757Gly",
        "hgvsWellDefined": "XP_011522932.1:p.Ser757Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2835,
          "referenceAllele": "A",
          "start": 2834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524631.3:c.2269A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522933.1:p.Ser757Gly",
        "hgvsWellDefined": "XP_011522933.1:p.Ser757Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547538"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1328,
          "referenceAllele": "A",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524632.3:c.1228A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522934.1:p.Ser410Gly",
        "hgvsWellDefined": "XP_011522934.1:p.Ser410Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547539"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2522,
          "referenceAllele": "A",
          "start": 2521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_017024488.2:c.2269A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879977.1:p.Ser757Gly",
        "hgvsWellDefined": "XP_016879977.1:p.Ser757Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575048"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2724,
          "referenceAllele": "A",
          "start": 2723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_017024489.1:c.2356A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879978.1:p.Ser786Gly",
        "hgvsWellDefined": "XP_016879978.1:p.Ser786Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826186166",
      "coordinates": [
        {
          "allele": "G",
          "end": 2911,
          "referenceAllele": "A",
          "start": 2910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193466.2:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180395.1:p.Ser820Gly",
        "hgvsWellDefined": "NP_001180395.1:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580396225",
      "coordinates": [
        {
          "allele": "G",
          "end": 3154,
          "referenceAllele": "A",
          "start": 3153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_015443.4:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056258.1:p.Ser820Gly",
        "hgvsWellDefined": "NP_056258.1:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697543",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432791.7:c.2458A>G"
          },
          "RefSeq": {
            "hgvs": "NM_015443.4:c.2458A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387393.3:p.Ser820Gly"
          },
          "RefSeq": {
            "hgvs": "NP_056258.1:p.Ser820Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826185462",
      "coordinates": [
        {
          "allele": "G",
          "end": 2708,
          "referenceAllele": "A",
          "start": 2707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193465.2:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180394.1:p.Ser820Gly",
        "hgvsWellDefined": "NP_001180394.1:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828815269",
      "coordinates": [
        {
          "allele": "G",
          "end": 2708,
          "referenceAllele": "A",
          "start": 2707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001379198.1:c.2458A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366127.1:p.Ser820Gly",
        "hgvsWellDefined": "NP_001366127.1:p.Ser820Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721930"
    }
  ],
  "type": "nucleotide"
}