{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041092",
  "communityStandardTitle": [
    "NM_183050.4(BCKDHB):c.79_89del (p.Pro27AlafsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357517[alleleid]",
        "alleleId": 357517,
        "preferredName": "NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370823",
        "RCV": [
          "RCV000410202"
        ],
        "variationId": 370823
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.80816489_80816499del?assembly=hg19",
        "id": "chr6:g.80816489_80816499del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.80106772_80106782del?assembly=hg38",
        "id": "chr6:g.80106772_80106782del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516795",
        "rs": 1057516795
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-80816488-TCCTGGCGCGGG-T?dataset=gnomad_r2_1",
        "id": "6-80816488-TCCTGGCGCGGG-T",
        "variant": "6:80816488 TCCTGGCGCGGG / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-80106771-TCCTGGCGCGGG-T?dataset=gnomad_r4",
        "id": "6-80106771-TCCTGGCGCGGG-T",
        "variant": "6:80106771 TCCTGGCGCGGG / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 80106782,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 80106771
        }
      ],
      "hgvs": [
        "NC_000006.12:g.80106772_80106782del",
        "CM000668.2:g.80106772_80106782del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 80816499,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 80816488
        }
      ],
      "hgvs": [
        "NC_000006.11:g.80816489_80816499del",
        "CM000668.1:g.80816489_80816499del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 80873218,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 80873207
        }
      ],
      "hgvs": [
        "NC_000006.10:g.80873208_80873218del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5156,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 5145
        }
      ],
      "hgvs": [
        "NG_009775.1:g.5146_5156del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001633"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5156,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 5145
        }
      ],
      "hgvs": [
        "NG_009775.2:g.5146_5156del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673531"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 112,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "ENST00000320393.9:c.79_89del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000318351.5:p.Pro27AlafsTer?",
        "hgvsWellDefined": "ENSP00000318351.5:p.[Pro27Ala;Leu31_Ala32insPhe;Arg33_Val42delinsProArgArgAspCysArgGlyCysGlyPro;Asp44del;Gln47_His53delinsGlyGlySerPheTyr;Thr55_Asp59delinsProAlaArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746348",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320393.9:c.79_89del"
          },
          "RefSeq": {
            "hgvs": "NM_183050.4:c.79_89del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000318351.5:p.Pro27AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_898871.1:p.Pro27AlafsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 136,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "ENST00000320393.8:c.79_89del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000318351.5:p.Pro27AlafsTer?",
        "hgvsWellDefined": "ENSP00000318351.5:p.[Pro27Ala;Leu31_Ala32insPhe;Arg33_Val42delinsProArgArgAspCysArgGlyCysGlyPro;Asp44del;Gln47_His53delinsGlyGlySerPheTyr;Thr55_Asp59delinsProAlaArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257799"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 136,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "ENST00000356489.9:c.79_89del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348880.5:p.Pro27AlafsTer?",
        "hgvsWellDefined": "ENSP00000348880.5:p.[Pro27Ala;Leu31_Ala32insPhe;Arg33_Val42delinsProArgArgAspCysArgGlyCysGlyPro;Asp44del;Gln47_His53delinsGlyGlySerPheTyr;Thr55_Asp59delinsProAlaArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263777"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 136,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "ENST00000369760.8:c.79_89del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358775.4:p.Pro27AlafsTer?",
        "hgvsWellDefined": "ENSP00000358775.4:p.[Pro27Ala;Leu31_Ala32insPhe;Arg33_Val42delinsProArgArgAspCysArgGlyCysGlyPro;Asp44del;Gln47_His53delinsGlyGlySerPheTyr;Thr55_Asp59delinsProAlaArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267690"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 156,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_000056.3:c.79_89del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000047.1:p.Pro27AlafsTer?",
        "hgvsWellDefined": "NP_000047.1:p.[Pro27Ala;Leu31_Ala32insPhe;Arg33_Val42delinsProArgArgAspCysArgGlyCysGlyPro;Asp44del;Gln47_His53delinsGlyGlySerPheTyr;Thr55_Asp59delinsProAlaArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006121"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 156,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_183050.2:c.79_89del"
      ],
      "proteinEffect": {
        "hgvs": "NP_898871.1:p.Pro27AlafsTer?",
        "hgvsWellDefined": "NP_898871.1:p.[Pro27Ala;Leu31_Ala32insPhe;Arg33_Val42delinsProArgArgAspCysArgGlyCysGlyPro;Asp44del;Gln47_His53delinsGlyGlySerPheTyr;Thr55_Asp59delinsProAlaArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044224"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 122,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_005248756.3:c.79_89del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248813.1:p.Pro27AlafsTer?",
        "hgvsWellDefined": "XP_005248813.1:p.[Pro27Ala;Leu31_Ala32insPhe;Arg33_Val42delinsProArgArgAspCysArgGlyCysGlyPro;Asp44del;Gln47_His53delinsGlyGlySerPheTyr;Thr55_Asp59delinsProAlaArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058579"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 40,
          "endIntronDirection": "+",
          "endIntronOffset": 99,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 40,
          "startIntronDirection": "+",
          "startIntronOffset": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_006715542.2:c.-15+89_-15+99del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715605.1:n.-15+89_-15+99del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071208"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 122,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536023.1:c.79_89del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534325.1:p.Pro27AlafsTer?",
        "hgvsWellDefined": "XP_011534325.1:p.[Pro27Ala;Leu31_Ala32insPhe;Arg33_Val42delinsProArgArgAspCysArgGlyCysGlyPro;Asp44del;Gln47_His53delinsGlyGlySerPheTyr;Thr55_Asp59delinsProAlaArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103025"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 122,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536024.1:c.79_89del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534326.1:p.Pro27AlafsTer?",
        "hgvsWellDefined": "XP_011534326.1:p.[Pro27Ala;Leu31_Ala32insPhe;Arg33_Val42delinsProArgArgAspCysArgGlyCysGlyPro;Asp44del;Gln47_His53delinsGlyGlySerPheTyr;Thr55_Asp59delinsProAlaArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103026"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 122,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536025.1:c.79_89del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534327.1:p.Pro27AlafsTer?",
        "hgvsWellDefined": "XP_011534327.1:p.[Pro27Ala;Leu31_Ala32insPhe;Arg33_Val42delinsProArgArgAspCysArgGlyCysGlyPro;Asp44del;Gln47_His53delinsGlyGlySerPheTyr;Thr55_Asp59delinsProAlaArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103027"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 122,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536027.1:c.79_89del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534329.1:p.Pro27AlafsTer?",
        "hgvsWellDefined": "XP_011534329.1:p.[Pro27Ala;Leu31_Ala32insPhe;Arg33_Val42delinsProArgArgAspCysArgGlyCysGlyPro;Asp44del;Gln47_His53delinsGlyGlySerPheTyr;Thr55_Asp59delinsProAlaArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103029"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 173,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_000056.4:c.79_89del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000047.1:p.Pro27AlafsTer?",
        "hgvsWellDefined": "NP_000047.1:p.[Pro27Ala;Leu31_Ala32insPhe;Arg33_Val42delinsProArgArgAspCysArgGlyCysGlyPro;Asp44del;Gln47_His53delinsGlyGlySerPheTyr;Thr55_Asp59delinsProAlaArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510747"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 74,
          "endIntronDirection": "+",
          "endIntronOffset": 99,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 74,
          "startIntronDirection": "+",
          "startIntronOffset": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_001318975.1:c.-15+89_-15+99del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305904.1:n.-15+89_-15+99del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513173"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 173,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_183050.3:c.79_89del"
      ],
      "proteinEffect": {
        "hgvs": "NP_898871.1:p.Pro27AlafsTer?",
        "hgvsWellDefined": "NP_898871.1:p.[Pro27Ala;Leu31_Ala32insPhe;Arg33_Val42delinsProArgArgAspCysArgGlyCysGlyPro;Asp44del;Gln47_His53delinsGlyGlySerPheTyr;Thr55_Asp59delinsProAlaArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526915"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 173,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NR_134945.1:n.163_173del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527881"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 119,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_005248756.5:c.79_89del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248813.1:p.Pro27AlafsTer?",
        "hgvsWellDefined": "XP_005248813.1:p.[Pro27Ala;Leu31_Ala32insPhe;Arg33_Val42delinsProArgArgAspCysArgGlyCysGlyPro;Asp44del;Gln47_His53delinsGlyGlySerPheTyr;Thr55_Asp59delinsProAlaArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533152"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 119,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536023.3:c.79_89del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534325.1:p.Pro27AlafsTer?",
        "hgvsWellDefined": "XP_011534325.1:p.[Pro27Ala;Leu31_Ala32insPhe;Arg33_Val42delinsProArgArgAspCysArgGlyCysGlyPro;Asp44del;Gln47_His53delinsGlyGlySerPheTyr;Thr55_Asp59delinsProAlaArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552290"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 119,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536024.3:c.79_89del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534326.1:p.Pro27AlafsTer?",
        "hgvsWellDefined": "XP_011534326.1:p.[Pro27Ala;Leu31_Ala32insPhe;Arg33_Val42delinsProArgArgAspCysArgGlyCysGlyPro;Asp44del;Gln47_His53delinsGlyGlySerPheTyr;Thr55_Asp59delinsProAlaArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552291"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 119,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536025.3:c.79_89del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534327.1:p.Pro27AlafsTer?",
        "hgvsWellDefined": "XP_011534327.1:p.[Pro27Ala;Leu31_Ala32insPhe;Arg33_Val42delinsProArgArgAspCysArgGlyCysGlyPro;Asp44del;Gln47_His53delinsGlyGlySerPheTyr;Thr55_Asp59delinsProAlaArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552292"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 119,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743546.2:n.109_119del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592715"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 119,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743547.2:n.109_119del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592716"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 119,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743548.2:n.109_119del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592717"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 119,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743549.2:n.109_119del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592718"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 119,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_002956292.1:n.109_119del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602454"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 112,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_183050.4:c.79_89del"
      ],
      "proteinEffect": {
        "hgvs": "NP_898871.1:p.Pro27AlafsTer?",
        "hgvsWellDefined": "NP_898871.1:p.[Pro27Ala;Leu31_Ala32insPhe;Arg33_Val42delinsProArgArgAspCysArgGlyCysGlyPro;Asp44del;Gln47_His53delinsGlyGlySerPheTyr;Thr55_Asp59delinsProAlaArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320393.9:c.79_89del"
          },
          "RefSeq": {
            "hgvs": "NM_183050.4:c.79_89del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000318351.5:p.Pro27AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_898871.1:p.Pro27AlafsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 112,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NR_134945.2:n.102_112del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703545"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 112,
          "referenceAllele": "CCTGGCGCGGG",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_000056.5:c.79_89del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000047.1:p.Pro27AlafsTer?",
        "hgvsWellDefined": "NP_000047.1:p.[Pro27Ala;Leu31_Ala32insPhe;Arg33_Val42delinsProArgArgAspCysArgGlyCysGlyPro;Asp44del;Gln47_His53delinsGlyGlySerPheTyr;Thr55_Asp59delinsProAlaArgSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710793"
    }
  ],
  "type": "nucleotide"
}