{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16044019",
  "communityStandardTitle": [
    "NM_130839.5(UBE3A):c.2553_2569del (p.Ser851ArgfsTer24)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361963[alleleid]",
        "alleleId": 361963,
        "preferredName": "NM_130839.5(UBE3A):c.2553_2569del (p.Ser851fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375262",
        "RCV": [
          "RCV000416334"
        ],
        "variationId": 375262
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.25584334_25584350del?assembly=hg19",
        "id": "chr15:g.25584334_25584350del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.25339187_25339203del?assembly=hg38",
        "id": "chr15:g.25339187_25339203del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519062",
        "rs": 1057519062
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 25339206,
          "referenceAllele": "TAAGTTTTTCTTTGCTT",
          "start": 25339189
        }
      ],
      "hgvs": [
        "NC_000015.10:g.25339190_25339206del",
        "CM000677.2:g.25339190_25339206del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 25584353,
          "referenceAllele": "TAAGTTTTTCTTTGCTT",
          "start": 25584336
        }
      ],
      "hgvs": [
        "NC_000015.9:g.25584337_25584353del",
        "CM000677.1:g.25584337_25584353del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 23135446,
          "referenceAllele": "TAAGTTTTTCTTTGCTT",
          "start": 23135429
        }
      ],
      "hgvs": [
        "NC_000015.8:g.23135430_23135446del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 104795,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 104778
        }
      ],
      "hgvs": [
        "NG_009268.1:g.104779_104795del",
        "LRG_15:g.104779_104795del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3480,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000438097.6:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411258.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "ENSP00000411258.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3893,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000635914.1:c.*878_*894del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490563.1:n.*878_*894del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762731"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 267,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000636667.1:c.90_106del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489625.1:p.Ser30ArgfsTer24",
        "hgvsWellDefined": "ENSP00000489625.1:p.[Ser30_Ala41delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr43_Tyr44delinsTrpHis;Ala45_Lys46insVal;Gly47_Leu51delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763294"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3266,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000637886.1:c.2553_2569del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490258.1:p.Ser851ArgfsTer24",
        "hgvsWellDefined": "ENSP00000490258.1:p.[Ser851_Ala862delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr864_Tyr865delinsTrpHis;Ala866_Lys867insVal;Gly868_Leu872delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764182"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3283,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000638011.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490111.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "ENSP00000490111.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764274"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3672,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000638155.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490557.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "ENSP00000490557.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764385"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3269,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000648336.2:c.2553_2569del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497572.2:p.Ser851ArgfsTer24",
        "hgvsWellDefined": "ENSP00000497572.2:p.[Ser851_Ala862delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr864_Tyr865delinsTrpHis;Ala866_Lys867insVal;Gly868_Leu872delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648336.2:c.2553_2569del"
          },
          "RefSeq": {
            "hgvs": "NM_130839.5:c.2553_2569del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497572.2:p.Ser851ArgfsTer24"
          },
          "RefSeq": {
            "hgvs": "NP_570854.1:p.Ser851ArgfsTer24"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3085,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000649550.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497549.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "ENSP00000497549.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770602"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3334,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000650110.1:c.2562_2578del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497594.1:p.Ser854ArgfsTer24",
        "hgvsWellDefined": "ENSP00000497594.1:p.[Ser854_Ala865delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr867_Tyr868delinsTrpHis;Ala869_Lys870insVal;Gly871_Leu875delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770940"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2548,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 2531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000675177.1:c.2376_2392del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502703.1:p.Ser792ArgfsTer?",
        "hgvsWellDefined": "ENSP00000502703.1:p.[Ser792_Ala803delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr805_Tyr806delinsTrpHis;Lys808_Leu813delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775038"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3117,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000232165.7:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000232165.5:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "ENSP00000232165.5:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248815"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2823,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 2806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000397954.6:c.2562_2578del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381045.2:p.Ser854ArgfsTer?",
        "hgvsWellDefined": "ENSP00000381045.2:p.[Ser854_Ala865delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr867_Tyr868delinsTrpHis;Lys870_Leu875delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278058"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2905,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 2888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000428984.6:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401265.2:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "ENSP00000401265.2:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290453"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2608,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 2591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000438097.5:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411258.1:p.Ser831ArgfsTer?",
        "hgvsWellDefined": "ENSP00000411258.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Lys847_Leu852delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294764"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3095,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000566215.5:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457771.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "ENSP00000457771.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379281"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 520,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000604860.3:c.504_520del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473822.2:p.Ser168ArgfsTer?",
        "hgvsWellDefined": "ENSP00000473822.2:p.[Ser168_Ala179delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr181_Tyr182delinsTrpHis;Lys184_Leu189delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399214"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3282,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000614096.4:c.2553_2569del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481796.1:p.Ser851ArgfsTer24",
        "hgvsWellDefined": "ENSP00000481796.1:p.[Ser851_Ala862delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr864_Tyr865delinsTrpHis;Ala866_Lys867insVal;Gly868_Leu872delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402027"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 380,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000626176.2:c.364_380del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406696"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3135,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000630424.2:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486349.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "ENSP00000486349.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407367"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3338,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_000462.3:c.2562_2578del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000453.2:p.Ser854ArgfsTer24",
        "hgvsWellDefined": "NP_000453.2:p.[Ser854_Ala865delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr867_Tyr868delinsTrpHis;Ala869_Lys870insVal;Gly871_Leu875delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006524"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2553,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 2536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_130838.1:c.2493_2509del",
        "LRG_15t1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570853.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_570853.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040432"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3273,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_130839.2:c.2553_2569del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570854.1:p.Ser851ArgfsTer24",
        "hgvsWellDefined": "NP_570854.1:p.[Ser851_Ala862delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr864_Tyr865delinsTrpHis;Ala866_Lys867insVal;Gly868_Leu872delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040433"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3597,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_005268267.3:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268324.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "XP_005268324.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065685"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3484,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_005268268.3:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268325.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "XP_005268325.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065686"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3424,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_005268269.3:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268326.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "XP_005268326.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065687"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3359,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_005268270.3:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268327.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "XP_005268327.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065688"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3104,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_005268271.3:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268328.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "XP_005268328.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065689"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2918,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 2901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_006720673.2:c.2553_2569del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720736.1:p.Ser851ArgfsTer24",
        "hgvsWellDefined": "XP_006720736.1:p.[Ser851_Ala862delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr864_Tyr865delinsTrpHis;Ala866_Lys867insVal;Gly868_Leu872delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073755"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3008,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 2991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_006720674.2:c.2553_2569del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720737.1:p.Ser851ArgfsTer24",
        "hgvsWellDefined": "XP_006720737.1:p.[Ser851_Ala862delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr864_Tyr865delinsTrpHis;Ala866_Lys867insVal;Gly868_Leu872delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073756"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3549,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_006720675.2:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720738.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "XP_006720738.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073757"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3168,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_006720676.2:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720739.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "XP_006720739.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073758"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3486,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_011521994.1:c.2562_2578del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520296.1:p.Ser854ArgfsTer24",
        "hgvsWellDefined": "XP_011520296.1:p.[Ser854_Ala865delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr867_Tyr868delinsTrpHis;Ala869_Lys870insVal;Gly871_Leu875delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089151"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3203,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_011521995.1:c.2562_2578del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520297.1:p.Ser854ArgfsTer24",
        "hgvsWellDefined": "XP_011520297.1:p.[Ser854_Ala865delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr867_Tyr868delinsTrpHis;Ala869_Lys870insVal;Gly871_Leu875delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089152"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3434,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_011521996.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520298.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "XP_011520298.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089153"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3366,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_000462.5:c.2562_2578del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000453.2:p.Ser854ArgfsTer24",
        "hgvsWellDefined": "NP_000453.2:p.[Ser854_Ala865delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr867_Tyr868delinsTrpHis;Ala869_Lys870insVal;Gly871_Leu875delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510796"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2910,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 2893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354505.1:c.2553_2569del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341434.1:p.Ser851ArgfsTer24",
        "hgvsWellDefined": "NP_001341434.1:p.[Ser851_Ala862delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr864_Tyr865delinsTrpHis;Ala866_Lys867insVal;Gly868_Leu872delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522471"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3437,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354506.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341435.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341435.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522472"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3533,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354507.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341436.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341436.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522473"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3497,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354508.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341437.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341437.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522474"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3610,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354509.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341438.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341438.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522475"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3447,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354511.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341440.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341440.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522476"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3463,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354512.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341441.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341441.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522477"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3467,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354513.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341442.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341442.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522478"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3414,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354523.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341452.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341452.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522487"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3171,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354526.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341455.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341455.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522490"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3337,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354538.1:c.2553_2569del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341467.1:p.Ser851ArgfsTer24",
        "hgvsWellDefined": "NP_001341467.1:p.[Ser851_Ala862delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr864_Tyr865delinsTrpHis;Ala866_Lys867insVal;Gly868_Leu872delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522501"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3372,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354539.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341468.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341468.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522502"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3727,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354540.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341469.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341469.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522503"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3562,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354541.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341470.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341470.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522504"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3181,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354542.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341471.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341471.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522505"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3742,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354543.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341472.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341472.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522506"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3528,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354544.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341473.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341473.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522507"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3145,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354545.1:c.2397_2413del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341474.1:p.Ser799ArgfsTer24",
        "hgvsWellDefined": "NP_001341474.1:p.[Ser799_Ala810delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr812_Tyr813delinsTrpHis;Ala814_Lys815insVal;Gly816_Leu820delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522508"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3075,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354546.1:c.2376_2392del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341475.1:p.Ser792ArgfsTer24",
        "hgvsWellDefined": "NP_001341475.1:p.[Ser792_Ala803delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr805_Tyr806delinsTrpHis;Ala807_Lys808insVal;Gly809_Leu813delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522509"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3341,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354547.1:c.2337_2353del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341476.1:p.Ser779ArgfsTer24",
        "hgvsWellDefined": "NP_001341476.1:p.[Ser779_Ala790delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr792_Tyr793delinsTrpHis;Ala794_Lys795insVal;Gly796_Leu800delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522510"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2961,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 2944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354548.1:c.2337_2353del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341477.1:p.Ser779ArgfsTer24",
        "hgvsWellDefined": "NP_001341477.1:p.[Ser779_Ala790delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr792_Tyr793delinsTrpHis;Ala794_Lys795insVal;Gly796_Leu800delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522511"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2952,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 2935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354549.1:c.2328_2344del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341478.1:p.Ser776ArgfsTer24",
        "hgvsWellDefined": "NP_001341478.1:p.[Ser776_Ala787delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr789_Tyr790delinsTrpHis;Ala791_Lys792insVal;Gly793_Leu797delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522512"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2050,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354550.1:c.1302_1318del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341479.1:p.Ser434ArgfsTer24",
        "hgvsWellDefined": "NP_001341479.1:p.[Ser434_Ala445delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr447_Tyr448delinsTrpHis;Ala449_Lys450insVal;Gly451_Leu455delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522513"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1866,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354551.1:c.1242_1258del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341480.1:p.Ser414ArgfsTer24",
        "hgvsWellDefined": "NP_001341480.1:p.[Ser414_Ala425delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr427_Tyr428delinsTrpHis;Ala429_Lys430insVal;Gly431_Leu435delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522514"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3117,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_130838.3:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570853.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_570853.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526461"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3301,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_130839.4:c.2553_2569del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570854.1:p.Ser851ArgfsTer24",
        "hgvsWellDefined": "NP_570854.1:p.[Ser851_Ala862delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr864_Tyr865delinsTrpHis;Ala866_Lys867insVal;Gly868_Leu872delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526462"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 18392,
          "endIntronDirection": "-",
          "endIntronOffset": 52389,
          "referenceAllele": "TAAGTTTTTCTTTGCTT",
          "start": 18392,
          "startIntronDirection": "-",
          "startIntronOffset": 52406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN037462",
      "geneNCBI_id": 104472715,
      "geneSymbol": "SNHG14",
      "hgvs": [
        "NR_146177.1:n.18393-52406_18393-52390del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529947"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3113,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NR_148916.1:n.3097_3113del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3203,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_011521995.3:c.2562_2578del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520297.1:p.Ser854ArgfsTer24",
        "hgvsWellDefined": "XP_011520297.1:p.[Ser854_Ala865delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr867_Tyr868delinsTrpHis;Ala869_Lys870insVal;Gly871_Leu875delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546419"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3759,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_017022547.2:c.2553_2569del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878036.1:p.Ser851ArgfsTer24",
        "hgvsWellDefined": "XP_016878036.1:p.[Ser851_Ala862delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr864_Tyr865delinsTrpHis;Ala866_Lys867insVal;Gly868_Leu872delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573500"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3754,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_017022548.2:c.2553_2569del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878037.1:p.Ser851ArgfsTer24",
        "hgvsWellDefined": "XP_016878037.1:p.[Ser851_Ala862delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr864_Tyr865delinsTrpHis;Ala866_Lys867insVal;Gly868_Leu872delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573501"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4230,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 4213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_017022550.2:c.2553_2569del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878039.1:p.Ser851ArgfsTer24",
        "hgvsWellDefined": "XP_016878039.1:p.[Ser851_Ala862delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr864_Tyr865delinsTrpHis;Ala866_Lys867insVal;Gly868_Leu872delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573502"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3182,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_017022556.2:c.2406_2422del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878045.1:p.Ser802ArgfsTer24",
        "hgvsWellDefined": "XP_016878045.1:p.[Ser802_Ala813delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr815_Tyr816delinsTrpHis;Ala817_Lys818insVal;Gly819_Leu823delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573503"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2926,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 2909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_024450043.1:c.2562_2578del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305811.1:p.Ser854ArgfsTer24",
        "hgvsWellDefined": "XP_024305811.1:p.[Ser854_Ala865delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr867_Tyr868delinsTrpHis;Ala869_Lys870insVal;Gly871_Leu875delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583585"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5263,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 5246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_024450044.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305812.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "XP_024305812.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583586"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3405,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354506.2:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341435.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341435.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690205"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3501,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354507.2:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341436.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341436.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690206"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3465,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354508.2:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341437.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341437.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690207"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3578,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354509.2:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341438.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341438.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690208"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3415,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354511.2:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341440.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341440.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690209"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3431,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354512.2:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341441.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341441.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3435,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354513.2:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341442.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341442.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690211"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3382,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354523.2:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341452.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341452.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690212"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3305,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354538.2:c.2553_2569del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341467.1:p.Ser851ArgfsTer24",
        "hgvsWellDefined": "NP_001341467.1:p.[Ser851_Ala862delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr864_Tyr865delinsTrpHis;Ala866_Lys867insVal;Gly868_Leu872delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690213"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3340,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354539.2:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341468.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341468.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690214"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3695,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354540.2:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341469.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341469.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690215"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3530,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354541.2:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341470.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341470.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690216"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3149,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354542.2:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341471.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341471.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690217"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3710,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354543.2:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341472.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341472.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690218"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3496,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354544.2:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341473.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001341473.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690219"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3113,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354545.2:c.2397_2413del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341474.1:p.Ser799ArgfsTer24",
        "hgvsWellDefined": "NP_001341474.1:p.[Ser799_Ala810delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr812_Tyr813delinsTrpHis;Ala814_Lys815insVal;Gly816_Leu820delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690220"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3043,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354546.2:c.2376_2392del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341475.1:p.Ser792ArgfsTer24",
        "hgvsWellDefined": "NP_001341475.1:p.[Ser792_Ala803delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr805_Tyr806delinsTrpHis;Ala807_Lys808insVal;Gly809_Leu813delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690221"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3309,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354547.2:c.2337_2353del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341476.1:p.Ser779ArgfsTer24",
        "hgvsWellDefined": "NP_001341476.1:p.[Ser779_Ala790delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr792_Tyr793delinsTrpHis;Ala794_Lys795insVal;Gly796_Leu800delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690222"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2929,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 2912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354548.2:c.2337_2353del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341477.1:p.Ser779ArgfsTer24",
        "hgvsWellDefined": "NP_001341477.1:p.[Ser779_Ala790delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr792_Tyr793delinsTrpHis;Ala794_Lys795insVal;Gly796_Leu800delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690223"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2920,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 2903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354549.2:c.2328_2344del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341478.1:p.Ser776ArgfsTer24",
        "hgvsWellDefined": "NP_001341478.1:p.[Ser776_Ala787delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr789_Tyr790delinsTrpHis;Ala791_Lys792insVal;Gly793_Leu797delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690224"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2018,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 2001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354550.2:c.1302_1318del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341479.1:p.Ser434ArgfsTer24",
        "hgvsWellDefined": "NP_001341479.1:p.[Ser434_Ala445delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr447_Tyr448delinsTrpHis;Ala449_Lys450insVal;Gly451_Leu455delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690225"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1834,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354551.2:c.1242_1258del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341480.1:p.Ser414ArgfsTer24",
        "hgvsWellDefined": "NP_001341480.1:p.[Ser414_Ala425delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr427_Tyr428delinsTrpHis;Ala429_Lys430insVal;Gly431_Leu435delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690226"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5290,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 5273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001374461.1:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361390.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_001361390.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693288"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3085,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_130838.4:c.2493_2509del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570853.1:p.Ser831ArgfsTer24",
        "hgvsWellDefined": "NP_570853.1:p.[Ser831_Ala842delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr844_Tyr845delinsTrpHis;Ala846_Lys847insVal;Gly848_Leu852delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699615"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3269,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_130839.5:c.2553_2569del"
      ],
      "proteinEffect": {
        "hgvs": "NP_570854.1:p.Ser851ArgfsTer24",
        "hgvsWellDefined": "NP_570854.1:p.[Ser851_Ala862delinsArgGluIleValGluGlyHisHisValCysGlnArg;Thr864_Tyr865delinsTrpHis;Ala866_Lys867insVal;Gly868_Leu872delinsGlnAsnLysThrLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699616",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648336.2:c.2553_2569del"
          },
          "RefSeq": {
            "hgvs": "NM_130839.5:c.2553_2569del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497572.2:p.Ser851ArgfsTer24"
          },
          "RefSeq": {
            "hgvs": "NP_570854.1:p.Ser851ArgfsTer24"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3081,
          "referenceAllele": "AGAAAAACTTAAAGCAA",
          "start": 3064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NR_148916.2:n.3065_3081del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704886"
    }
  ],
  "type": "nucleotide"
}