{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10654760",
  "communityStandardTitle": [
    "NM_006766.5(KAT6A):c.4254_4257del (p.Glu1419TrpfsTer12)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=353897[alleleid]",
        "alleleId": 353897,
        "preferredName": "NM_006766.5(KAT6A):c.4254_4257del (p.Glu1419fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/369686",
        "RCV": [
          "RCV000408607"
        ],
        "variationId": 369686
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.41791481_41791484del?assembly=hg19",
        "id": "chr8:g.41791481_41791484del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.41933963_41933966del?assembly=hg38",
        "id": "chr8:g.41933963_41933966del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516049",
        "rs": 1057516049
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 41933968,
          "referenceAllele": "CACT",
          "start": 41933964
        }
      ],
      "hgvs": [
        "NC_000008.11:g.41933965_41933968del",
        "CM000670.2:g.41933965_41933968del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 41791486,
          "referenceAllele": "CACT",
          "start": 41791482
        }
      ],
      "hgvs": [
        "NC_000008.10:g.41791483_41791486del",
        "CM000670.1:g.41791483_41791486del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 41910643,
          "referenceAllele": "CACT",
          "start": 41910639
        }
      ],
      "hgvs": [
        "NC_000008.9:g.41910640_41910643del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 123064,
          "referenceAllele": "AGTG",
          "start": 123060
        }
      ],
      "hgvs": [
        "NG_042093.1:g.123061_123064del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005926"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4669,
          "referenceAllele": "AGTG",
          "start": 4665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "ENST00000265713.8:c.4254_4257del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265713.2:p.Glu1419TrpfsTer12",
        "hgvsWellDefined": "ENSP00000265713.2:p.[Glu1419_Val1425delinsTrpIleTrpLysLeuTyrArg;Ala1427_Gln1429delinsCys;Thr1432_Thr1449del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742874",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265713.8:c.4254_4257del"
          },
          "RefSeq": {
            "hgvs": "NM_006766.5:c.4254_4257del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265713.2:p.Glu1419TrpfsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_006757.2:p.Glu1419TrpfsTer12"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4804,
          "referenceAllele": "AGTG",
          "start": 4800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "ENST00000396930.4:c.4254_4257del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380136.3:p.Glu1419TrpfsTer12",
        "hgvsWellDefined": "ENSP00000380136.3:p.[Glu1419_Val1425delinsTrpIleTrpLysLeuTyrArg;Ala1427_Gln1429delinsCys;Thr1432_Thr1449del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753580"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4770,
          "referenceAllele": "AGTG",
          "start": 4766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "ENST00000406337.6:c.4260_4263del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385888.2:p.Glu1421TrpfsTer12",
        "hgvsWellDefined": "ENSP00000385888.2:p.[Glu1421_Val1427delinsTrpIleTrpLysLeuTyrArg;Ala1429_Gln1431delinsCys;Thr1434_Thr1451del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754153"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4757,
          "referenceAllele": "AGTG",
          "start": 4753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "ENST00000648335.1:c.4254_4257del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497086.1:p.Glu1419TrpfsTer12",
        "hgvsWellDefined": "ENSP00000497086.1:p.[Glu1419_Val1425delinsTrpIleTrpLysLeuTyrArg;Ala1427_Gln1429delinsCys;Thr1432_Thr1449del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769918"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2938,
          "referenceAllele": "AGTG",
          "start": 2934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "ENST00000649817.1:c.2935_2938del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770774"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4669,
          "referenceAllele": "AGTG",
          "start": 4665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "ENST00000265713.6:c.4254_4257del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265713.2:p.Glu1419TrpfsTer12",
        "hgvsWellDefined": "ENSP00000265713.2:p.[Glu1419_Val1425delinsTrpIleTrpLysLeuTyrArg;Ala1427_Gln1429delinsCys;Thr1432_Thr1449del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251802"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4801,
          "referenceAllele": "AGTG",
          "start": 4797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "ENST00000396930.3:c.4254_4257del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380136.3:p.Glu1419TrpfsTer12",
        "hgvsWellDefined": "ENSP00000380136.3:p.[Glu1419_Val1425delinsTrpIleTrpLysLeuTyrArg;Ala1427_Gln1429delinsCys;Thr1432_Thr1449del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277506"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4757,
          "referenceAllele": "AGTG",
          "start": 4753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "ENST00000406337.5:c.4254_4257del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385888.1:p.Glu1419TrpfsTer12",
        "hgvsWellDefined": "ENSP00000385888.1:p.[Glu1419_Val1425delinsTrpIleTrpLysLeuTyrArg;Ala1427_Gln1429delinsCys;Thr1432_Thr1449del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280605"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4801,
          "referenceAllele": "AGTG",
          "start": 4797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "NM_001099412.1:c.4254_4257del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092882.1:p.Glu1419TrpfsTer12",
        "hgvsWellDefined": "NP_001092882.1:p.[Glu1419_Val1425delinsTrpIleTrpLysLeuTyrArg;Ala1427_Gln1429delinsCys;Thr1432_Thr1449del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010746"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4757,
          "referenceAllele": "AGTG",
          "start": 4753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "NM_001099413.1:c.4254_4257del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092883.1:p.Glu1419TrpfsTer12",
        "hgvsWellDefined": "NP_001092883.1:p.[Glu1419_Val1425delinsTrpIleTrpLysLeuTyrArg;Ala1427_Gln1429delinsCys;Thr1432_Thr1449del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246692"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4669,
          "referenceAllele": "AGTG",
          "start": 4665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "NM_006766.3:c.4254_4257del"
      ],
      "proteinEffect": {
        "hgvs": "NP_006757.2:p.Glu1419TrpfsTer12",
        "hgvsWellDefined": "NP_006757.2:p.[Glu1419_Val1425delinsTrpIleTrpLysLeuTyrArg;Ala1427_Gln1429delinsCys;Thr1432_Thr1449del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031751"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4708,
          "referenceAllele": "AGTG",
          "start": 4704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "NM_006766.4:c.4254_4257del"
      ],
      "proteinEffect": {
        "hgvs": "NP_006757.2:p.Glu1419TrpfsTer12",
        "hgvsWellDefined": "NP_006757.2:p.[Glu1419_Val1425delinsTrpIleTrpLysLeuTyrArg;Ala1427_Gln1429delinsCys;Thr1432_Thr1449del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031752"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4934,
          "referenceAllele": "AGTG",
          "start": 4930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "XM_011544656.1:c.4386_4389del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542958.1:p.Glu1463TrpfsTer12",
        "hgvsWellDefined": "XP_011542958.1:p.[Glu1463_Val1469delinsTrpIleTrpLysLeuTyrArg;Ala1471_Gln1473delinsCys;Thr1476_Thr1493del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111567"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4801,
          "referenceAllele": "AGTG",
          "start": 4797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "XM_011544657.1:c.4386_4389del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542959.1:p.Glu1463TrpfsTer12",
        "hgvsWellDefined": "XP_011542959.1:p.[Glu1463_Val1469delinsTrpIleTrpLysLeuTyrArg;Ala1471_Gln1473delinsCys;Thr1476_Thr1493del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111568"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4891,
          "referenceAllele": "AGTG",
          "start": 4887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "XM_011544658.1:c.4386_4389del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542960.1:p.Glu1463TrpfsTer12",
        "hgvsWellDefined": "XP_011542960.1:p.[Glu1463_Val1469delinsTrpIleTrpLysLeuTyrArg;Ala1471_Gln1473delinsCys;Thr1476_Thr1493del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111569"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4913,
          "referenceAllele": "AGTG",
          "start": 4909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "XM_011544659.1:c.4365_4368del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542961.1:p.Glu1456TrpfsTer12",
        "hgvsWellDefined": "XP_011542961.1:p.[Glu1456_Val1462delinsTrpIleTrpLysLeuTyrArg;Ala1464_Gln1466delinsCys;Thr1469_Thr1486del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111570"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4820,
          "referenceAllele": "AGTG",
          "start": 4816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "XM_011544660.1:c.4272_4275del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542962.1:p.Glu1425TrpfsTer12",
        "hgvsWellDefined": "XP_011542962.1:p.[Glu1425_Val1431delinsTrpIleTrpLysLeuTyrArg;Ala1433_Gln1435delinsCys;Thr1438_Thr1455del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111571"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4934,
          "referenceAllele": "AGTG",
          "start": 4930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "XM_011544656.2:c.4386_4389del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542958.1:p.Glu1463TrpfsTer12",
        "hgvsWellDefined": "XP_011542958.1:p.[Glu1463_Val1469delinsTrpIleTrpLysLeuTyrArg;Ala1471_Gln1473delinsCys;Thr1476_Thr1493del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555760"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4802,
          "referenceAllele": "AGTG",
          "start": 4798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "XM_011544657.3:c.4386_4389del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542959.1:p.Glu1463TrpfsTer12",
        "hgvsWellDefined": "XP_011542959.1:p.[Glu1463_Val1469delinsTrpIleTrpLysLeuTyrArg;Ala1471_Gln1473delinsCys;Thr1476_Thr1493del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555761"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4889,
          "referenceAllele": "AGTG",
          "start": 4885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "XM_011544658.3:c.4386_4389del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542960.1:p.Glu1463TrpfsTer12",
        "hgvsWellDefined": "XP_011542960.1:p.[Glu1463_Val1469delinsTrpIleTrpLysLeuTyrArg;Ala1471_Gln1473delinsCys;Thr1476_Thr1493del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555762"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4913,
          "referenceAllele": "AGTG",
          "start": 4909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "XM_011544659.2:c.4365_4368del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542961.1:p.Glu1456TrpfsTer12",
        "hgvsWellDefined": "XP_011542961.1:p.[Glu1456_Val1462delinsTrpIleTrpLysLeuTyrArg;Ala1464_Gln1466delinsCys;Thr1469_Thr1486del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555763"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4802,
          "referenceAllele": "AGTG",
          "start": 4798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "XM_017013863.1:c.4254_4257del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869352.1:p.Glu1419TrpfsTer12",
        "hgvsWellDefined": "XP_016869352.1:p.[Glu1419_Val1425delinsTrpIleTrpLysLeuTyrArg;Ala1427_Gln1429delinsCys;Thr1432_Thr1449del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567005"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4757,
          "referenceAllele": "AGTG",
          "start": 4753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "XM_017013864.2:c.4254_4257del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869353.1:p.Glu1419TrpfsTer12",
        "hgvsWellDefined": "XP_016869353.1:p.[Glu1419_Val1425delinsTrpIleTrpLysLeuTyrArg;Ala1427_Gln1429delinsCys;Thr1432_Thr1449del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4822,
          "referenceAllele": "AGTG",
          "start": 4818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "XM_024447285.1:c.2826_2829del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303053.1:p.Glu943TrpfsTer12",
        "hgvsWellDefined": "XP_024303053.1:p.[Glu943_Val949delinsTrpIleTrpLysLeuTyrArg;Ala951_Gln953delinsCys;Thr956_Thr973del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580871"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4669,
          "referenceAllele": "AGTG",
          "start": 4665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013013",
      "geneNCBI_id": 7994,
      "geneSymbol": "KAT6A",
      "hgvs": [
        "NM_006766.5:c.4254_4257del"
      ],
      "proteinEffect": {
        "hgvs": "NP_006757.2:p.Glu1419TrpfsTer12",
        "hgvsWellDefined": "NP_006757.2:p.[Glu1419_Val1425delinsTrpIleTrpLysLeuTyrArg;Ala1427_Gln1429delinsCys;Thr1432_Thr1449del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667611",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265713.8:c.4254_4257del"
          },
          "RefSeq": {
            "hgvs": "NM_006766.5:c.4254_4257del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265713.2:p.Glu1419TrpfsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_006757.2:p.Glu1419TrpfsTer12"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}