{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043938",
  "communityStandardTitle": [
    "NM_001278512.2(AP3B2):c.2579_2582del (p.Leu860GlnfsTer10)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361754[alleleid]",
        "alleleId": 361754,
        "preferredName": "NM_001278512.2(AP3B2):c.2579_2582del (p.Leu860fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374849",
        "RCV": [
          "RCV000415561"
        ],
        "variationId": 374849
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.83331901_83331904del?assembly=hg19",
        "id": "chr15:g.83331901_83331904del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.82663149_82663152del?assembly=hg38",
        "id": "chr15:g.82663149_82663152del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519271",
        "rs": 1057519271
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-83331900-TGTGA-T?dataset=gnomad_r2_1",
        "id": "15-83331900-TGTGA-T",
        "variant": "15:83331900 TGTGA / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-82663148-TGTGA-T?dataset=gnomad_r4",
        "id": "15-82663148-TGTGA-T",
        "variant": "15:82663148 TGTGA / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 82663155,
          "referenceAllele": "AGTG",
          "start": 82663151
        }
      ],
      "hgvs": [
        "NC_000015.10:g.82663152_82663155del",
        "CM000677.2:g.82663152_82663155del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 83331907,
          "referenceAllele": "AGTG",
          "start": 83331903
        }
      ],
      "hgvs": [
        "NC_000015.9:g.83331904_83331907del",
        "CM000677.1:g.83331904_83331907del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 81128962,
          "referenceAllele": "AGTG",
          "start": 81128958
        }
      ],
      "hgvs": [
        "NC_000015.8:g.81128959_81128962del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 51760,
          "referenceAllele": "CTCA",
          "start": 51756
        }
      ],
      "hgvs": [
        "NG_052957.1:g.51757_51760del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617270"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2756,
          "referenceAllele": "CTCA",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000261722.8:c.2540_2543del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261722.4:p.Leu847GlnfsTer10",
        "hgvsWellDefined": "ENSP00000261722.4:p.[Leu847Gln;Asp849_Val853del;Ser855_Ser858del;Val860_Gly864delinsTrpTyr;Gln866_His870del;Val872_Leu877delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742194"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2751,
          "referenceAllele": "CTCA",
          "start": 2747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000535359.6:c.2579_2582del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440984.1:p.Leu860GlnfsTer10",
        "hgvsWellDefined": "ENSP00000440984.1:p.[Leu860Gln;Asp862_Val866del;Ser868_Ser871del;Val873_Gly877delinsTrpTyr;Gln879_His883del;Val885_Leu890delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759441",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000535359.6:c.2579_2582del"
          },
          "RefSeq": {
            "hgvs": "NM_001278512.2:c.2579_2582del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000440984.1:p.Leu860GlnfsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_001265441.1:p.Leu860GlnfsTer10"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3028,
          "referenceAllele": "CTCA",
          "start": 3024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000535385.6:n.3025_3028del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759442"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2671,
          "referenceAllele": "CTCA",
          "start": 2667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000537735.2:n.2668_2671del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759540"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2728,
          "referenceAllele": "CTCA",
          "start": 2724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000543938.6:n.2725_2728del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759755"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2680,
          "referenceAllele": "CTCA",
          "start": 2676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000642989.2:c.2651_2654del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493485.1:p.Leu884GlnfsTer10",
        "hgvsWellDefined": "ENSP00000493485.1:p.[Leu884Gln;Asp886_Val890del;Ser892_Ser895del;Val897_Gly901delinsTrpTyr;Gln903_His907del;Val909_Leu914delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767028"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2694,
          "referenceAllele": "CTCA",
          "start": 2690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000652847.1:c.2522_2525del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499785.1:p.Leu841GlnfsTer10",
        "hgvsWellDefined": "ENSP00000499785.1:p.[Leu841Gln;Asp843_Val847del;Ser849_Ser852del;Val854_Gly858delinsTrpTyr;Gln860_His864del;Val866_Leu871delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772400"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3138,
          "referenceAllele": "CTCA",
          "start": 3134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000657321.1:c.*2597_*2600del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499716.1:n.*2597_*2600del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772583"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1648,
          "referenceAllele": "CTCA",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000660624.1:c.1430_1433del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499379.1:p.Leu477GlnfsTer10",
        "hgvsWellDefined": "ENSP00000499379.1:p.[Leu477Gln;Asp479_Val483del;Ser485_Ser488del;Val490_Gly494delinsTrpTyr;Gln496_His500del;Val502_Leu507delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772700"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1814,
          "referenceAllele": "CTCA",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000661532.1:c.1811_1814del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772735"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2667,
          "referenceAllele": "CTCA",
          "start": 2663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000663651.1:n.2664_2667del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772823"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2642,
          "referenceAllele": "CTCA",
          "start": 2638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000666973.1:c.2522_2525del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499288.1:p.Leu841GlnfsTer10",
        "hgvsWellDefined": "ENSP00000499288.1:p.[Leu841Gln;Asp843_Val847del;Ser849_Ser852del;Val854_Gly858delinsTrpTyr;Gln860_His864del;Val866_Leu871delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772963"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3230,
          "referenceAllele": "CTCA",
          "start": 3226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000667758.1:c.*2736_*2739del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499318.1:n.*2736_*2739del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772992"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2815,
          "referenceAllele": "CTCA",
          "start": 2811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000668385.1:c.*2320_*2323del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499544.1:n.*2320_*2323del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2273,
          "referenceAllele": "CTCA",
          "start": 2269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000668458.1:c.2270_2273del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2694,
          "referenceAllele": "CTCA",
          "start": 2690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000668990.2:c.2522_2525del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499235.1:p.Leu841GlnfsTer10",
        "hgvsWellDefined": "ENSP00000499235.1:p.[Leu841Gln;Asp843_Val847del;Ser849_Ser852del;Val854_Gly858delinsTrpTyr;Gln860_His864del;Val866_Leu871delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773049"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2495,
          "referenceAllele": "CTCA",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000669930.1:c.2351_2354del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499671.1:p.Leu784GlnfsTer10",
        "hgvsWellDefined": "ENSP00000499671.1:p.[Leu784Gln;Asp786_Val790del;Ser792_Ser795del;Val797_Gly801delinsTrpTyr;Gln803_His807del;Val809_Leu814delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773080"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2464,
          "referenceAllele": "CTCA",
          "start": 2460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000679388.1:n.2461_2464del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779020"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2931,
          "referenceAllele": "CTCA",
          "start": 2927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000679531.1:n.2928_2931del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779160"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 962,
          "referenceAllele": "CTCA",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000679891.1:n.959_962del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779513"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3230,
          "referenceAllele": "CTCA",
          "start": 3226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000679950.1:n.3227_3230del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779572"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3564,
          "referenceAllele": "CTCA",
          "start": 3560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000680492.1:n.3561_3564del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780108"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1501,
          "referenceAllele": "CTCA",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000680912.1:n.1498_1501del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780526"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2931,
          "referenceAllele": "CTCA",
          "start": 2927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000680946.1:n.2928_2931del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780560"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3437,
          "referenceAllele": "CTCA",
          "start": 3433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000681044.1:n.3434_3437del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780657"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3274,
          "referenceAllele": "CTCA",
          "start": 3270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000681327.1:c.*2597_*2600del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505423.1:n.*2597_*2600del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780937"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2931,
          "referenceAllele": "CTCA",
          "start": 2927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000681452.1:n.2928_2931del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781059"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3437,
          "referenceAllele": "CTCA",
          "start": 3433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000681464.1:n.3434_3437del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781071"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2733,
          "referenceAllele": "CTCA",
          "start": 2729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000261722.7:c.2522_2525del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261722.3:p.Leu841GlnfsTer10",
        "hgvsWellDefined": "ENSP00000261722.3:p.[Leu841Gln;Asp843_Val847del;Ser849_Ser852del;Val854_Gly858delinsTrpTyr;Gln860_His864del;Val866_Leu871delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250825"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2502,
          "referenceAllele": "CTCA",
          "start": 2498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000535348.5:c.2426_2429del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438721.1:p.Leu809GlnfsTer10",
        "hgvsWellDefined": "ENSP00000438721.1:p.[Leu809Gln;Asp811_Val815del;Ser817_Ser820del;Val822_Gly826delinsTrpTyr;Gln828_His832del;Val834_Leu839delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359679"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2655,
          "referenceAllele": "CTCA",
          "start": 2651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000535359.5:c.2579_2582del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440984.1:p.Leu860GlnfsTer10",
        "hgvsWellDefined": "ENSP00000440984.1:p.[Leu860Gln;Asp862_Val866del;Ser868_Ser871del;Val873_Gly877delinsTrpTyr;Gln879_His883del;Val885_Leu890delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359687"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 172,
          "referenceAllele": "CTCA",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000538592.1:c.169_172del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445804.1:n.169_172del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361407"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1648,
          "referenceAllele": "CTCA",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000543938.5:n.1645_1648del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364294"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 101,
          "referenceAllele": "CTCA",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000545315.1:n.98_101del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365047"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2727,
          "referenceAllele": "CTCA",
          "start": 2723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "ENST00000620652.4:c.2522_2525del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479229.1:p.Leu841GlnfsTer10",
        "hgvsWellDefined": "ENSP00000479229.1:p.[Leu841Gln;Asp843_Val847del;Ser849_Ser852del;Val854_Gly858delinsTrpTyr;Gln860_His864del;Val866_Leu871delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404929"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2631,
          "referenceAllele": "CTCA",
          "start": 2627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "NM_001278511.1:c.2426_2429del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265440.1:p.Leu809GlnfsTer10",
        "hgvsWellDefined": "NP_001265440.1:p.[Leu809Gln;Asp811_Val815del;Ser817_Ser820del;Val822_Gly826delinsTrpTyr;Gln828_His832del;Val834_Leu839delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021341"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2784,
          "referenceAllele": "CTCA",
          "start": 2780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "NM_001278512.1:c.2579_2582del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265441.1:p.Leu860GlnfsTer10",
        "hgvsWellDefined": "NP_001265441.1:p.[Leu860Gln;Asp862_Val866del;Ser868_Ser871del;Val873_Gly877delinsTrpTyr;Gln879_His883del;Val885_Leu890delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021342"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2727,
          "referenceAllele": "CTCA",
          "start": 2723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "NM_004644.4:c.2522_2525del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004635.2:p.Leu841GlnfsTer10",
        "hgvsWellDefined": "NP_004635.2:p.[Leu841Gln;Asp843_Val847del;Ser849_Ser852del;Val854_Gly858delinsTrpTyr;Gln860_His864del;Val866_Leu871delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029799"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1328,
          "endIntronDirection": "+",
          "endIntronOffset": 13009,
          "referenceAllele": "AGTG",
          "start": 1328,
          "startIntronDirection": "+",
          "startIntronOffset": 13005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027523",
      "geneNCBI_id": 283692,
      "geneSymbol": "CPEB1-AS1",
      "hgvs": [
        "NR_046096.1:n.1328+13006_1328+13009del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051481"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2676,
          "referenceAllele": "CTCA",
          "start": 2672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "XM_011522097.1:c.2507_2510del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520399.1:p.Leu836GlnfsTer10",
        "hgvsWellDefined": "XP_011520399.1:p.[Leu836Gln;Asp838_Val842del;Ser844_Ser847del;Val849_Gly853delinsTrpTyr;Gln855_His859del;Val861_Leu866delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089254"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2652,
          "referenceAllele": "CTCA",
          "start": 2648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "XM_011522098.1:c.2483_2486del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520400.1:p.Leu828GlnfsTer10",
        "hgvsWellDefined": "XP_011520400.1:p.[Leu828Gln;Asp830_Val834del;Ser836_Ser839del;Val841_Gly845delinsTrpTyr;Gln847_His851del;Val853_Leu858delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089255"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1624,
          "referenceAllele": "CTCA",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "XM_011522100.1:c.1430_1433del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520402.1:p.Leu477GlnfsTer10",
        "hgvsWellDefined": "XP_011520402.1:p.[Leu477Gln;Asp479_Val483del;Ser485_Ser488del;Val490_Gly494delinsTrpTyr;Gln496_His500del;Val502_Leu507delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089257"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2619,
          "referenceAllele": "CTCA",
          "start": 2615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "XM_017022640.2:c.2450_2453del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878129.1:p.Leu817GlnfsTer10",
        "hgvsWellDefined": "XP_016878129.1:p.[Leu817Gln;Asp819_Val823del;Ser825_Ser828del;Val830_Gly834delinsTrpTyr;Gln836_His840del;Val842_Leu847delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573552"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 542,
          "referenceAllele": "CTCA",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "XM_024450081.1:c.-140_-137del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305849.1:n.-140_-137del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583623"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1079,
          "referenceAllele": "CTCA",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "XM_024450082.1:c.-731_-728del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305850.1:n.-731_-728del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583624"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2753,
          "referenceAllele": "CTCA",
          "start": 2749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "XR_001751404.2:n.2750_2753del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598307"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2751,
          "referenceAllele": "CTCA",
          "start": 2747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "NM_001278512.2:c.2579_2582del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265441.1:p.Leu860GlnfsTer10",
        "hgvsWellDefined": "NP_001265441.1:p.[Leu860Gln;Asp862_Val866del;Ser868_Ser871del;Val873_Gly877delinsTrpTyr;Gln879_His883del;Val885_Leu890delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681504",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000535359.6:c.2579_2582del"
          },
          "RefSeq": {
            "hgvs": "NM_001278512.2:c.2579_2582del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000440984.1:p.Leu860GlnfsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_001265441.1:p.Leu860GlnfsTer10"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2694,
          "referenceAllele": "CTCA",
          "start": 2690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "NM_004644.5:c.2522_2525del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004635.2:p.Leu841GlnfsTer10",
        "hgvsWellDefined": "NP_004635.2:p.[Leu841Gln;Asp843_Val847del;Ser849_Ser852del;Val854_Gly858delinsTrpTyr;Gln860_His864del;Val866_Leu871delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696201"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2598,
          "referenceAllele": "CTCA",
          "start": 2594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000567",
      "geneNCBI_id": 8120,
      "geneSymbol": "AP3B2",
      "hgvs": [
        "NM_001278511.2:c.2426_2429del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265440.1:p.Leu809GlnfsTer10",
        "hgvsWellDefined": "NP_001265440.1:p.[Leu809Gln;Asp811_Val815del;Ser817_Ser820del;Val822_Gly826delinsTrpTyr;Gln828_His832del;Val834_Leu839delinsPhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715572"
    }
  ],
  "type": "nucleotide"
}