{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA278929",
  "communityStandardTitle": [
    "NM_012330.4(KAT6B):c.3962_3963del (p.Gln1321ArgfsTer20)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=213599[alleleid]",
        "alleleId": 213599,
        "preferredName": "NM_012330.4(KAT6B):c.3962_3963del (p.Gln1321fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216946",
        "RCV": [
          "RCV000195677"
        ],
        "variationId": 216946
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.76788544_76788545del?assembly=hg19",
        "id": "chr10:g.76788544_76788545del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.75028786_75028787del?assembly=hg38",
        "id": "chr10:g.75028786_75028787del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863224883",
        "rs": 863224883
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "",
          "end": 75028787,
          "referenceAllele": "AA",
          "start": 75028785
        }
      ],
      "hgvs": [
        "NC_000010.11:g.75028786_75028787del",
        "CM000672.2:g.75028786_75028787del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "",
          "end": 76788545,
          "referenceAllele": "AA",
          "start": 76788543
        }
      ],
      "hgvs": [
        "NC_000010.10:g.76788544_76788545del",
        "CM000672.1:g.76788544_76788545del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "",
          "end": 76458551,
          "referenceAllele": "AA",
          "start": 76458549
        }
      ],
      "hgvs": [
        "NC_000010.9:g.76458550_76458551del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 207375,
          "referenceAllele": "AA",
          "start": 207373
        }
      ],
      "hgvs": [
        "NG_032048.1:g.207374_207375del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005108"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4477,
          "referenceAllele": "AA",
          "start": 4475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000287239.10:c.3962_3963del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287239.4:p.Gln1321ArgfsTer20",
        "hgvsWellDefined": "ENSP00000287239.4:p.[Gln1321_Thr1329delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1331del;Val1333_Thr1337delinsCysLys;Pro1339_Glu1341del;Pro1343_Leu1347delinsHis;Lys1349_Glu1351delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743891",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287239.10:c.3962_3963del"
          },
          "RefSeq": {
            "hgvs": "NM_012330.4:c.3962_3963del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287239.4:p.Gln1321ArgfsTer20"
          },
          "RefSeq": {
            "hgvs": "NP_036462.2:p.Gln1321ArgfsTer20"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3799,
          "referenceAllele": "AA",
          "start": 3797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000372711.2:c.3413_3414del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361796.1:p.Gln1138ArgfsTer20",
        "hgvsWellDefined": "ENSP00000361796.1:p.[Gln1138_Thr1146delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1148del;Val1150_Thr1154delinsCysLys;Pro1156_Glu1158del;Pro1160_Leu1164delinsHis;Lys1166_Glu1168delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751065"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3569,
          "referenceAllele": "AA",
          "start": 3567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000372714.6:c.3086_3087del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361799.1:p.Gln1029ArgfsTer20",
        "hgvsWellDefined": "ENSP00000361799.1:p.[Gln1029_Thr1037delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1039del;Val1041_Thr1045delinsCysLys;Pro1047_Glu1049del;Pro1051_Leu1055delinsHis;Lys1057_Glu1059delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751066"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4079,
          "referenceAllele": "AA",
          "start": 4077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000372724.6:c.3413_3414del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361809.2:p.Gln1138ArgfsTer20",
        "hgvsWellDefined": "ENSP00000361809.2:p.[Gln1138_Thr1146delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1148del;Val1150_Thr1154delinsCysLys;Pro1156_Glu1158del;Pro1160_Leu1164delinsHis;Lys1166_Glu1168delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751069"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3521,
          "referenceAllele": "AA",
          "start": 3519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000372725.6:c.3086_3087del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361810.1:p.Gln1029ArgfsTer20",
        "hgvsWellDefined": "ENSP00000361810.1:p.[Gln1029_Thr1037delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1039del;Val1041_Thr1045delinsCysLys;Pro1047_Glu1049del;Pro1051_Leu1055delinsHis;Lys1057_Glu1059delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751070"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4508,
          "referenceAllele": "AA",
          "start": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000648048.1:c.3962_3963del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497325.1:p.Gln1321ArgfsTer20",
        "hgvsWellDefined": "ENSP00000497325.1:p.[Gln1321_Thr1329delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1331del;Val1333_Thr1337delinsCysLys;Pro1339_Glu1341del;Pro1343_Leu1347delinsHis;Lys1349_Glu1351delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769760"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3882,
          "referenceAllele": "AA",
          "start": 3880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000648370.1:c.3413_3414del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497804.1:p.Gln1138ArgfsTer20",
        "hgvsWellDefined": "ENSP00000497804.1:p.[Gln1138_Thr1146delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1148del;Val1150_Thr1154delinsCysLys;Pro1156_Glu1158del;Pro1160_Leu1164delinsHis;Lys1166_Glu1168delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769939"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4712,
          "referenceAllele": "AA",
          "start": 4710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000648725.1:c.3962_3963del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497841.1:p.Gln1321ArgfsTer20",
        "hgvsWellDefined": "ENSP00000497841.1:p.[Gln1321_Thr1329delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1331del;Val1333_Thr1337delinsCysLys;Pro1339_Glu1341del;Pro1343_Leu1347delinsHis;Lys1349_Glu1351delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770141"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3788,
          "referenceAllele": "AA",
          "start": 3786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000648892.1:c.3086_3087del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497048.1:p.Gln1029ArgfsTer20",
        "hgvsWellDefined": "ENSP00000497048.1:p.[Gln1029_Thr1037delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1039del;Val1041_Thr1045delinsCysLys;Pro1047_Glu1049del;Pro1051_Leu1055delinsHis;Lys1057_Glu1059delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770239"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3397,
          "referenceAllele": "AA",
          "start": 3395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000649006.1:c.3086_3087del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498139.1:p.Gln1029ArgfsTer20",
        "hgvsWellDefined": "ENSP00000498139.1:p.[Gln1029_Thr1037delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1039del;Val1041_Thr1045delinsCysLys;Pro1047_Glu1049del;Pro1051_Leu1055delinsHis;Lys1057_Glu1059delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770303"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4474,
          "referenceAllele": "AA",
          "start": 4472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000649463.1:c.3962_3963del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497166.1:p.Gln1321ArgfsTer20",
        "hgvsWellDefined": "ENSP00000497166.1:p.[Gln1321_Thr1329delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1331del;Val1333_Thr1337delinsCysLys;Pro1339_Glu1341del;Pro1343_Leu1347delinsHis;Lys1349_Glu1351delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770558"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3304,
          "referenceAllele": "AA",
          "start": 3302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000650232.1:c.2897_2898del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497570.1:p.Gln966ArgfsTer20",
        "hgvsWellDefined": "ENSP00000497570.1:p.[Gln966_Thr974delinsArgGlyLysGlnLysGlyArgAsnMet;Ala976del;Val978_Thr982delinsCysLys;Pro984_Glu986del;Pro988_Asp991delinsHisIleThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771004"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4452,
          "referenceAllele": "AA",
          "start": 4450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000287239.8:c.3962_3963del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287239.4:p.Gln1321ArgfsTer20",
        "hgvsWellDefined": "ENSP00000287239.4:p.[Gln1321_Thr1329delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1331del;Val1333_Thr1337delinsCysLys;Pro1339_Glu1341del;Pro1343_Leu1347delinsHis;Lys1349_Glu1351delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253425"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3725,
          "referenceAllele": "AA",
          "start": 3723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000372711.1:c.3413_3414del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361796.1:p.Gln1138ArgfsTer20",
        "hgvsWellDefined": "ENSP00000361796.1:p.[Gln1138_Thr1146delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1148del;Val1150_Thr1154delinsCysLys;Pro1156_Glu1158del;Pro1160_Leu1164delinsHis;Lys1166_Glu1168delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269263"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3489,
          "referenceAllele": "AA",
          "start": 3487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000372714.5:c.3086_3087del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361799.1:p.Gln1029ArgfsTer20",
        "hgvsWellDefined": "ENSP00000361799.1:p.[Gln1029_Thr1037delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1039del;Val1041_Thr1045delinsCysLys;Pro1047_Glu1049del;Pro1051_Leu1055delinsHis;Lys1057_Glu1059delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269265"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3601,
          "referenceAllele": "AA",
          "start": 3599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000372724.5:c.3086_3087del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361809.1:p.Gln1029ArgfsTer20",
        "hgvsWellDefined": "ENSP00000361809.1:p.[Gln1029_Thr1037delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1039del;Val1041_Thr1045delinsCysLys;Pro1047_Glu1049del;Pro1051_Leu1055delinsHis;Lys1057_Glu1059delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269272"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3438,
          "referenceAllele": "AA",
          "start": 3436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000372725.5:c.3086_3087del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361810.1:p.Gln1029ArgfsTer20",
        "hgvsWellDefined": "ENSP00000361810.1:p.[Gln1029_Thr1037delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1039del;Val1041_Thr1045delinsCysLys;Pro1047_Glu1049del;Pro1051_Leu1055delinsHis;Lys1057_Glu1059delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269273"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4115,
          "referenceAllele": "AA",
          "start": 4113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001256468.1:c.3413_3414del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243397.1:p.Gln1138ArgfsTer20",
        "hgvsWellDefined": "NP_001243397.1:p.[Gln1138_Thr1146delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1148del;Val1150_Thr1154delinsCysLys;Pro1156_Glu1158del;Pro1160_Leu1164delinsHis;Lys1166_Glu1168delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019268"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3788,
          "referenceAllele": "AA",
          "start": 3786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001256469.1:c.3086_3087del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243398.1:p.Gln1029ArgfsTer20",
        "hgvsWellDefined": "NP_001243398.1:p.[Gln1029_Thr1037delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1039del;Val1041_Thr1045delinsCysLys;Pro1047_Glu1049del;Pro1051_Leu1055delinsHis;Lys1057_Glu1059delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019269"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4664,
          "referenceAllele": "AA",
          "start": 4662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_012330.3:c.3962_3963del"
      ],
      "proteinEffect": {
        "hgvs": "NP_036462.2:p.Gln1321ArgfsTer20",
        "hgvsWellDefined": "NP_036462.2:p.[Gln1321_Thr1329delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1331del;Val1333_Thr1337delinsCysLys;Pro1339_Glu1341del;Pro1343_Leu1347delinsHis;Lys1349_Glu1351delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032507"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4725,
          "referenceAllele": "AA",
          "start": 4723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_005269664.2:c.3962_3963del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269721.1:p.Gln1321ArgfsTer20",
        "hgvsWellDefined": "XP_005269721.1:p.[Gln1321_Thr1329delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1331del;Val1333_Thr1337delinsCysLys;Pro1339_Glu1341del;Pro1343_Leu1347delinsHis;Lys1349_Glu1351delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066226"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 576,
          "endIntronDirection": "-",
          "endIntronOffset": 2191,
          "referenceAllele": "TT",
          "start": 576,
          "startIntronDirection": "-",
          "startIntronOffset": 2193
        }
      ],
      "hgvs": [
        "XR_946064.1:n.577-2193_577-2192del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139652"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4704,
          "endIntronDirection": "-",
          "endIntronOffset": 2191,
          "referenceAllele": "TT",
          "start": 4704,
          "startIntronDirection": "-",
          "startIntronOffset": 2193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023481",
      "geneNCBI_id": 338599,
      "geneSymbol": "DUSP29",
      "hgvs": [
        "XM_011539747.2:c.*3622-2193_*3622-2192del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538049.1:n.*3622-2193_*3622-2192del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553774"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4381,
          "referenceAllele": "AA",
          "start": 4379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016000.2:c.3962_3963del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871489.1:p.Gln1321ArgfsTer20",
        "hgvsWellDefined": "XP_016871489.1:p.[Gln1321_Thr1329delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1331del;Val1333_Thr1337delinsCysLys;Pro1339_Glu1341del;Pro1343_Leu1347delinsHis;Lys1349_Glu1351delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568552"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4676,
          "referenceAllele": "AA",
          "start": 4674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016002.1:c.3962_3963del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871491.1:p.Gln1321ArgfsTer20",
        "hgvsWellDefined": "XP_016871491.1:p.[Gln1321_Thr1329delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1331del;Val1333_Thr1337delinsCysLys;Pro1339_Glu1341del;Pro1343_Leu1347delinsHis;Lys1349_Glu1351delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568553"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4347,
          "referenceAllele": "AA",
          "start": 4345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016003.1:c.3962_3963del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871492.1:p.Gln1321ArgfsTer20",
        "hgvsWellDefined": "XP_016871492.1:p.[Gln1321_Thr1329delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1331del;Val1333_Thr1337delinsCysLys;Pro1339_Glu1341del;Pro1343_Leu1347delinsHis;Lys1349_Glu1351delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568554"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4219,
          "referenceAllele": "AA",
          "start": 4217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016004.2:c.3800_3801del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871493.1:p.Gln1267ArgfsTer20",
        "hgvsWellDefined": "XP_016871493.1:p.[Gln1267_Thr1275delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1277del;Val1279_Thr1283delinsCysLys;Pro1285_Glu1287del;Pro1289_Leu1293delinsHis;Lys1295_Glu1297delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568555"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3832,
          "referenceAllele": "AA",
          "start": 3830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016005.2:c.3413_3414del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871494.1:p.Gln1138ArgfsTer20",
        "hgvsWellDefined": "XP_016871494.1:p.[Gln1138_Thr1146delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1148del;Val1150_Thr1154delinsCysLys;Pro1156_Glu1158del;Pro1160_Leu1164delinsHis;Lys1166_Glu1168delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568556"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3505,
          "referenceAllele": "AA",
          "start": 3503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016006.2:c.3086_3087del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871495.1:p.Gln1029ArgfsTer20",
        "hgvsWellDefined": "XP_016871495.1:p.[Gln1029_Thr1037delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1039del;Val1041_Thr1045delinsCysLys;Pro1047_Glu1049del;Pro1051_Leu1055delinsHis;Lys1057_Glu1059delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568557"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3471,
          "referenceAllele": "AA",
          "start": 3469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016008.2:c.3086_3087del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871497.1:p.Gln1029ArgfsTer20",
        "hgvsWellDefined": "XP_016871497.1:p.[Gln1029_Thr1037delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1039del;Val1041_Thr1045delinsCysLys;Pro1047_Glu1049del;Pro1051_Leu1055delinsHis;Lys1057_Glu1059delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568558"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3626,
          "referenceAllele": "AA",
          "start": 3624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016009.1:c.2924_2925del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871498.1:p.Gln975ArgfsTer20",
        "hgvsWellDefined": "XP_016871498.1:p.[Gln975_Thr983delinsArgGlyLysGlnLysGlyArgAsnMet;Ala985del;Val987_Thr991delinsCysLys;Pro993_Glu995del;Pro997_Leu1001delinsHis;Lys1003_Glu1005delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568559"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4477,
          "referenceAllele": "AA",
          "start": 4475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_012330.4:c.3962_3963del"
      ],
      "proteinEffect": {
        "hgvs": "NP_036462.2:p.Gln1321ArgfsTer20",
        "hgvsWellDefined": "NP_036462.2:p.[Gln1321_Thr1329delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1331del;Val1333_Thr1337delinsCysLys;Pro1339_Glu1341del;Pro1343_Leu1347delinsHis;Lys1349_Glu1351delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668010",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287239.10:c.3962_3963del"
          },
          "RefSeq": {
            "hgvs": "NM_012330.4:c.3962_3963del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287239.4:p.Gln1321ArgfsTer20"
          },
          "RefSeq": {
            "hgvs": "NP_036462.2:p.Gln1321ArgfsTer20"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3439,
          "referenceAllele": "AA",
          "start": 3437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370132.1:c.2924_2925del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357061.1:p.Gln975ArgfsTer20",
        "hgvsWellDefined": "NP_001357061.1:p.[Gln975_Thr983delinsArgGlyLysGlnLysGlyArgAsnMet;Ala985del;Val987_Thr991delinsCysLys;Pro993_Glu995del;Pro997_Leu1001delinsHis;Lys1003_Glu1005delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692156"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2798,
          "referenceAllele": "AA",
          "start": 2796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370133.1:c.2273_2274del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357062.1:p.Gln758ArgfsTer20",
        "hgvsWellDefined": "NP_001357062.1:p.[Gln758_Thr766delinsArgGlyLysGlnLysGlyArgAsnMet;Ala768del;Val770_Thr774delinsCysLys;Pro776_Glu778del;Pro780_Leu784delinsHis;Lys786_Glu788delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692157"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2940,
          "referenceAllele": "AA",
          "start": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370134.1:c.1877_1878del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357063.1:p.Gln626ArgfsTer20",
        "hgvsWellDefined": "NP_001357063.1:p.[Gln626_Thr634delinsArgGlyLysGlnLysGlyArgAsnMet;Ala636del;Val638_Thr642delinsCysLys;Pro644_Glu646del;Pro648_Leu652delinsHis;Lys654_Glu656delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692158"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2672,
          "referenceAllele": "AA",
          "start": 2670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370135.1:c.1619_1620del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357064.1:p.Gln540ArgfsTer20",
        "hgvsWellDefined": "NP_001357064.1:p.[Gln540_Thr548delinsArgGlyLysGlnLysGlyArgAsnMet;Ala550del;Val552_Thr556delinsCysLys;Pro558_Glu560del;Pro562_Leu566delinsHis;Lys568_Glu570delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692159"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4487,
          "referenceAllele": "AA",
          "start": 4485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370136.1:c.3962_3963del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357065.1:p.Gln1321ArgfsTer20",
        "hgvsWellDefined": "NP_001357065.1:p.[Gln1321_Thr1329delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1331del;Val1333_Thr1337delinsCysLys;Pro1339_Glu1341del;Pro1343_Leu1347delinsHis;Lys1349_Glu1351delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692160"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4508,
          "referenceAllele": "AA",
          "start": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370137.1:c.3962_3963del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357066.1:p.Gln1321ArgfsTer20",
        "hgvsWellDefined": "NP_001357066.1:p.[Gln1321_Thr1329delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1331del;Val1333_Thr1337delinsCysLys;Pro1339_Glu1341del;Pro1343_Leu1347delinsHis;Lys1349_Glu1351delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692161"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3938,
          "referenceAllele": "AA",
          "start": 3936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370138.1:c.3413_3414del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357067.1:p.Gln1138ArgfsTer20",
        "hgvsWellDefined": "NP_001357067.1:p.[Gln1138_Thr1146delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1148del;Val1150_Thr1154delinsCysLys;Pro1156_Glu1158del;Pro1160_Leu1164delinsHis;Lys1166_Glu1168delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692162"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3548,
          "referenceAllele": "AA",
          "start": 3546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370139.1:c.3086_3087del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357068.1:p.Gln1029ArgfsTer20",
        "hgvsWellDefined": "NP_001357068.1:p.[Gln1029_Thr1037delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1039del;Val1041_Thr1045delinsCysLys;Pro1047_Glu1049del;Pro1051_Leu1055delinsHis;Lys1057_Glu1059delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692163"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3611,
          "referenceAllele": "AA",
          "start": 3609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370140.1:c.3086_3087del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357069.1:p.Gln1029ArgfsTer20",
        "hgvsWellDefined": "NP_001357069.1:p.[Gln1029_Thr1037delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1039del;Val1041_Thr1045delinsCysLys;Pro1047_Glu1049del;Pro1051_Leu1055delinsHis;Lys1057_Glu1059delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692164"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3541,
          "referenceAllele": "AA",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370141.1:c.3086_3087del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357070.1:p.Gln1029ArgfsTer20",
        "hgvsWellDefined": "NP_001357070.1:p.[Gln1029_Thr1037delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1039del;Val1041_Thr1045delinsCysLys;Pro1047_Glu1049del;Pro1051_Leu1055delinsHis;Lys1057_Glu1059delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692165"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3531,
          "referenceAllele": "AA",
          "start": 3529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370142.1:c.3086_3087del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357071.1:p.Gln1029ArgfsTer20",
        "hgvsWellDefined": "NP_001357071.1:p.[Gln1029_Thr1037delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1039del;Val1041_Thr1045delinsCysLys;Pro1047_Glu1049del;Pro1051_Leu1055delinsHis;Lys1057_Glu1059delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692166"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3352,
          "referenceAllele": "AA",
          "start": 3350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370143.1:c.2897_2898del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357072.1:p.Gln966ArgfsTer20",
        "hgvsWellDefined": "NP_001357072.1:p.[Gln966_Thr974delinsArgGlyLysGlnLysGlyArgAsnMet;Ala976del;Val978_Thr982delinsCysLys;Pro984_Glu986del;Pro988_Leu992delinsHis;Lys994_Glu996delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692167"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3412,
          "referenceAllele": "AA",
          "start": 3410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370144.1:c.2897_2898del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357073.1:p.Gln966ArgfsTer20",
        "hgvsWellDefined": "NP_001357073.1:p.[Gln966_Thr974delinsArgGlyLysGlnLysGlyArgAsnMet;Ala976del;Val978_Thr982delinsCysLys;Pro984_Glu986del;Pro988_Leu992delinsHis;Lys994_Glu996delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692168"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3928,
          "referenceAllele": "AA",
          "start": 3926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001256468.2:c.3413_3414del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243397.1:p.Gln1138ArgfsTer20",
        "hgvsWellDefined": "NP_001243397.1:p.[Gln1138_Thr1146delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1148del;Val1150_Thr1154delinsCysLys;Pro1156_Glu1158del;Pro1160_Leu1164delinsHis;Lys1166_Glu1168delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714770"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3601,
          "referenceAllele": "AA",
          "start": 3599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001256469.2:c.3086_3087del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243398.1:p.Gln1029ArgfsTer20",
        "hgvsWellDefined": "NP_001243398.1:p.[Gln1029_Thr1037delinsArgGlyLysGlnLysGlyArgAsnMet;Ala1039del;Val1041_Thr1045delinsCysLys;Pro1047_Glu1049del;Pro1051_Leu1055delinsHis;Lys1057_Glu1059delinsThrArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714771"
    }
  ],
  "type": "nucleotide"
}