{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA379632617",
  "communityStandardTitle": [
    "NM_030962.4(SBF2):c.5013_5015del (p.Lys1672del)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.9787656_9787658del?assembly=hg38",
        "id": "chr11:g.9787656_9787658del"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 9787658,
          "referenceAllele": "TTA",
          "start": 9787655
        }
      ],
      "hgvs": [
        "NC_000011.10:g.9787656_9787658del",
        "CM000673.2:g.9787656_9787658del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 9809205,
          "referenceAllele": "TTA",
          "start": 9809202
        }
      ],
      "hgvs": [
        "NC_000011.9:g.9809203_9809205del",
        "CM000673.1:g.9809203_9809205del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 9765781,
          "referenceAllele": "TTA",
          "start": 9765778
        }
      ],
      "hgvs": [
        "NC_000011.8:g.9765779_9765781del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 511552,
          "referenceAllele": "TAA",
          "start": 511549
        }
      ],
      "hgvs": [
        "NG_008074.1:g.511550_511552del",
        "LRG_267:g.511550_511552del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000819"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1499,
          "referenceAllele": "TAA",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000524961.6:n.1497_1499del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825700"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1551,
          "referenceAllele": "TAA",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000532095.2:n.1549_1551del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825810"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5240,
          "referenceAllele": "TAA",
          "start": 5237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000675281.2:c.5088_5090del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502491.1:p.Lys1697del",
        "hgvsWellDefined": "ENSP00000502491.1:p.Lys1697del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826906"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5265,
          "referenceAllele": "TAA",
          "start": 5262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000676324.2:c.*1321_*1323del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502578.1:n.*1321_*1323del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826924"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5210,
          "referenceAllele": "TAA",
          "start": 5207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000676387.2:c.5070_5072del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502779.1:p.Lys1691del",
        "hgvsWellDefined": "ENSP00000502779.1:p.Lys1691del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826925"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4622,
          "referenceAllele": "TAA",
          "start": 4619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000688344.1:c.4620_4622del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509987.1:p.Lys1541del",
        "hgvsWellDefined": "ENSP00000509987.1:p.Lys1541del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831581"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5170,
          "referenceAllele": "TAA",
          "start": 5167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000689128.1:c.5109_5111del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509587.1:p.Lys1704del",
        "hgvsWellDefined": "ENSP00000509587.1:p.Lys1704del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5093,
          "referenceAllele": "TAA",
          "start": 5090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000689258.1:c.4950_4952del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510475.1:p.Lys1651del",
        "hgvsWellDefined": "ENSP00000510475.1:p.Lys1651del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832077"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1181,
          "referenceAllele": "TAA",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000689342.1:c.1179_1181del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832119"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2186,
          "referenceAllele": "TAA",
          "start": 2183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000689356.1:n.2184_2186del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3719,
          "referenceAllele": "TAA",
          "start": 3716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000689597.1:c.3717_3719del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510781.1:p.Lys1240del",
        "hgvsWellDefined": "ENSP00000510781.1:p.Lys1240del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832254"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5167,
          "referenceAllele": "TAA",
          "start": 5164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000689940.1:c.5007_5009del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508452.1:p.Lys1670del",
        "hgvsWellDefined": "ENSP00000508452.1:p.Lys1670del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832455"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1095,
          "referenceAllele": "TAA",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000690944.1:c.1093_1095del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832955"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1491,
          "referenceAllele": "TAA",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000691616.1:n.1489_1491del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833297"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5038,
          "referenceAllele": "TAA",
          "start": 5035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000692716.1:c.4884_4886del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509545.1:p.Lys1629del",
        "hgvsWellDefined": "ENSP00000509545.1:p.Lys1629del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833846"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1934,
          "referenceAllele": "TAA",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000693541.1:n.1932_1934del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834297"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5165,
          "referenceAllele": "TAA",
          "start": 5162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000256190.13:c.5013_5015del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256190.8:p.Lys1672del",
        "hgvsWellDefined": "ENSP00000256190.8:p.Lys1672del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741753",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256190.13:c.5013_5015del"
          },
          "RefSeq": {
            "hgvs": "NM_030962.4:c.5013_5015del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256190.8:p.Lys1672del"
          },
          "RefSeq": {
            "hgvs": "NP_112224.1:p.Lys1672del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5240,
          "referenceAllele": "TAA",
          "start": 5237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000675281.1:c.5088_5090del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502491.1:p.Lys1697del",
        "hgvsWellDefined": "ENSP00000502491.1:p.Lys1697del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775121"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5265,
          "referenceAllele": "TAA",
          "start": 5262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000676324.1:c.*1321_*1323del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502578.1:n.*1321_*1323del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776020"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5210,
          "referenceAllele": "TAA",
          "start": 5207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000676387.1:c.5070_5072del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502779.1:p.Lys1691del",
        "hgvsWellDefined": "ENSP00000502779.1:p.Lys1691del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776076"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5153,
          "referenceAllele": "TAA",
          "start": 5150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000256190.12:c.5013_5015del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256190.8:p.Lys1672del",
        "hgvsWellDefined": "ENSP00000256190.8:p.Lys1672del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250151"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 318,
          "referenceAllele": "TAA",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000525040.5:n.316_318del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351117"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 179,
          "referenceAllele": "TAA",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000532095.1:c.177_179del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434620.1:p.Lys60del",
        "hgvsWellDefined": "ENSP00000434620.1:p.Lys60del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357081"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4874,
          "referenceAllele": "TAA",
          "start": 4871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "ENST00000617179.4:c.4872_4874del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482806.1:p.Lys1625del",
        "hgvsWellDefined": "ENSP00000482806.1:p.Lys1625del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645473111",
      "coordinates": [
        {
          "allele": "",
          "end": 5153,
          "referenceAllele": "TAA",
          "start": 5150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "NM_030962.3:c.5013_5015del",
        "LRG_267t1:c.5013_5015del"
      ],
      "proteinEffect": {
        "hgvs": "NP_112224.1:p.Lys1672del",
        "hgvsWellDefined": "NP_112224.1:p.Lys1672del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038518"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 211,
          "endIntronDirection": "-",
          "endIntronOffset": 20189,
          "referenceAllele": "TTA",
          "start": 211,
          "startIntronDirection": "-",
          "startIntronOffset": 20192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027438",
      "geneNCBI_id": 283104,
      "geneSymbol": "SBF2-AS1",
      "hgvs": [
        "NR_036485.1:n.212-20192_212-20190del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049727"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5247,
          "referenceAllele": "TAA",
          "start": 5244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "XM_005253154.3:c.5109_5111del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253211.1:p.Lys1704del",
        "hgvsWellDefined": "XP_005253211.1:p.Lys1704del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060173"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5118,
          "referenceAllele": "TAA",
          "start": 5115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "XM_005253155.3:c.4980_4982del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253212.1:p.Lys1661del",
        "hgvsWellDefined": "XP_005253212.1:p.Lys1661del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060174"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5133,
          "referenceAllele": "TAA",
          "start": 5130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "XM_011520394.1:c.4995_4997del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518696.1:p.Lys1666del",
        "hgvsWellDefined": "XP_011518696.1:p.Lys1666del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087562"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 455,
          "endIntronDirection": "+",
          "endIntronOffset": 2882,
          "referenceAllele": "TTA",
          "start": 455,
          "startIntronDirection": "+",
          "startIntronOffset": 2879
        }
      ],
      "hgvs": [
        "XR_931024.1:n.455+2880_455+2882del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127151"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 270,
          "endIntronDirection": "-",
          "endIntronOffset": 3210,
          "referenceAllele": "TTA",
          "start": 270,
          "startIntronDirection": "-",
          "startIntronOffset": 3213
        }
      ],
      "hgvs": [
        "XR_931025.1:n.271-3213_271-3211del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127152"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5249,
          "referenceAllele": "TAA",
          "start": 5246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "XM_005253154.5:c.5109_5111del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253211.1:p.Lys1704del",
        "hgvsWellDefined": "XP_005253211.1:p.Lys1704del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533904"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5120,
          "referenceAllele": "TAA",
          "start": 5117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "XM_005253155.5:c.4980_4982del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253212.1:p.Lys1661del",
        "hgvsWellDefined": "XP_005253212.1:p.Lys1661del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533905"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5135,
          "referenceAllele": "TAA",
          "start": 5132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "XM_011520394.3:c.4995_4997del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518696.1:p.Lys1666del",
        "hgvsWellDefined": "XP_011518696.1:p.Lys1666del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545709"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6593,
          "referenceAllele": "TAA",
          "start": 6590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "XM_017018372.2:c.4971_4973del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873861.1:p.Lys1658del",
        "hgvsWellDefined": "XP_016873861.1:p.Lys1658del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570314"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5160,
          "referenceAllele": "TAA",
          "start": 5157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "XM_017018373.2:c.4971_4973del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873862.1:p.Lys1658del",
        "hgvsWellDefined": "XP_016873862.1:p.Lys1658del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570315"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5024,
          "referenceAllele": "TAA",
          "start": 5021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "XM_017018374.2:c.4884_4886del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873863.1:p.Lys1629del",
        "hgvsWellDefined": "XP_016873863.1:p.Lys1629del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570316"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5012,
          "referenceAllele": "TAA",
          "start": 5009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "XM_017018375.2:c.4872_4874del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873864.1:p.Lys1625del",
        "hgvsWellDefined": "XP_016873864.1:p.Lys1625del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570317"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5122,
          "referenceAllele": "TAA",
          "start": 5119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "XR_001747994.2:n.5120_5122del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573079638",
      "coordinates": [
        {
          "allele": "",
          "end": 5261,
          "referenceAllele": "TAA",
          "start": 5258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "NM_001386339.1:c.5109_5111del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373268.1:p.Lys1704del",
        "hgvsWellDefined": "NP_001373268.1:p.Lys1704del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724496"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829111747",
      "coordinates": [
        {
          "allele": "",
          "end": 5036,
          "referenceAllele": "TAA",
          "start": 5033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "NM_001386342.1:c.4884_4886del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373271.1:p.Lys1629del",
        "hgvsWellDefined": "NP_001373271.1:p.Lys1629del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724497"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645473111",
      "coordinates": [
        {
          "allele": "",
          "end": 5165,
          "referenceAllele": "TAA",
          "start": 5162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002135",
      "geneNCBI_id": 81846,
      "geneSymbol": "SBF2",
      "hgvs": [
        "NM_030962.4:c.5013_5015del"
      ],
      "proteinEffect": {
        "hgvs": "NP_112224.1:p.Lys1672del",
        "hgvsWellDefined": "NP_112224.1:p.Lys1672del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728747",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256190.13:c.5013_5015del"
          },
          "RefSeq": {
            "hgvs": "NM_030962.4:c.5013_5015del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256190.8:p.Lys1672del"
          },
          "RefSeq": {
            "hgvs": "NP_112224.1:p.Lys1672del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}