{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA221190",
  "communityStandardTitle": [
    "NM_000709.4(BCKDHA):c.14del (p.Ile5ThrfsTer9)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99256[alleleid]",
        "alleleId": 99256,
        "preferredName": "NM_000709.4(BCKDHA):c.14del (p.Ile5fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93349",
        "RCV": [
          "RCV000173164",
          "RCV001854397"
        ],
        "variationId": 93349
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41903746del?assembly=hg19",
        "id": "chr19:g.41903746del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41903746delT?assembly=hg19",
        "id": "chr19:g.41903746delT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41397841del?assembly=hg38",
        "id": "chr19:g.41397841del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398123494",
        "rs": 398123494
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41397840-AT-A?dataset=gnomad_r4",
        "id": "19-41397840-AT-A",
        "variant": "19:41397840 AT / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 41397841,
          "referenceAllele": "T",
          "start": 41397840
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41397841del",
        "CM000681.2:g.41397841del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 41903746,
          "referenceAllele": "T",
          "start": 41903745
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41903746del",
        "CM000681.1:g.41903746del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 46595586,
          "referenceAllele": "T",
          "start": 46595585
        }
      ],
      "hgvs": [
        "NC_000019.8:g.46595586del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5053,
          "referenceAllele": "T",
          "start": 5052
        }
      ],
      "hgvs": [
        "NG_013004.1:g.5053del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002651"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 24,
          "referenceAllele": "T",
          "start": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000269980.7:c.14del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269980.2:p.Ile5ThrfsTer9",
        "hgvsWellDefined": "ENSP00000269980.2:p.[Ile5_Arg12delinsThr;Asn14Gln;Leu17del;Gln19_Pro28del;Ala30_Arg31del;Leu33_Ala34del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743136",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.14del"
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.14del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:p.Ile5ThrfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:p.Ile5ThrfsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 382,
          "referenceAllele": "T",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000269980.6:c.14del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269980.2:p.Ile5ThrfsTer9",
        "hgvsWellDefined": "ENSP00000269980.2:p.[Ile5_Arg12delinsThr;Asn14Gln;Leu17del;Gln19_Pro28del;Ala30_Arg31del;Leu33_Ala34del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252214"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 19,
          "referenceAllele": "T",
          "start": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000457836.6:c.14del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416000.2:p.Ile5ThrfsTer9",
        "hgvsWellDefined": "ENSP00000416000.2:p.[Ile5_Arg12delinsThr;Asn14Gln;Leu17del;Gln19_Pro33delinsGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304136"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 34,
          "referenceAllele": "T",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000538423.5:n.34del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361315"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 337,
          "endIntronDirection": "-",
          "endIntronOffset": 12795,
          "referenceAllele": "T",
          "start": 337,
          "startIntronDirection": "-",
          "startIntronOffset": 12796
        }
      ],
      "hgvs": [
        "ENST00000540732.3:c.211-12796del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443246.1:n.211-12796del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362558"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 22,
          "referenceAllele": "T",
          "start": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000542943.5:c.14del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440345.1:p.Ile5ThrfsTer9",
        "hgvsWellDefined": "ENSP00000440345.1:p.[Ile5_Arg12delinsThr;Asn14Gln;Leu17del;Gln19_Pro28del;Ala30_Arg31del;Leu33_Ala34del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363739"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 53,
          "referenceAllele": "T",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000595085.5:c.14del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471150.2:p.Ile5ThrfsTer9",
        "hgvsWellDefined": "ENSP00000471150.2:p.[Ile5_Arg12delinsThr;Asn14Gln;Leu17del;Gln19_Pro28del;Ala30_Arg31del;Leu33_Ala34del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394918"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 350,
          "endIntronDirection": "-",
          "endIntronOffset": 12795,
          "referenceAllele": "T",
          "start": 350,
          "startIntronDirection": "-",
          "startIntronOffset": 12796
        }
      ],
      "hgvs": [
        "ENST00000604424.1:n.351-12796del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS399032"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 53,
          "referenceAllele": "T",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.3:c.14del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000700.1:p.Ile5ThrfsTer9",
        "hgvsWellDefined": "NP_000700.1:p.[Ile5_Arg12delinsThr;Asn14Gln;Leu17del;Gln19_Pro28del;Ala30_Arg31del;Leu33_Ala34del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006747"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 53,
          "referenceAllele": "T",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.1:c.14del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.Ile5ThrfsTer9",
        "hgvsWellDefined": "NP_001158255.1:p.[Ile5_Arg12delinsThr;Asn14Gln;Leu17del;Gln19_Pro28del;Ala30_Arg31del;Leu33_Ala34del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014670"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 24,
          "referenceAllele": "T",
          "start": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.4:c.14del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000700.1:p.Ile5ThrfsTer9",
        "hgvsWellDefined": "NP_000700.1:p.[Ile5_Arg12delinsThr;Asn14Gln;Leu17del;Gln19_Pro28del;Ala30_Arg31del;Leu33_Ala34del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.14del"
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.14del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:p.Ile5ThrfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:p.Ile5ThrfsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 24,
          "referenceAllele": "T",
          "start": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.2:c.14del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.Ile5ThrfsTer9",
        "hgvsWellDefined": "NP_001158255.1:p.[Ile5_Arg12delinsThr;Asn14Gln;Leu17del;Gln19_Pro28del;Ala30_Arg31del;Leu33_Ala34del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678396"
    }
  ],
  "type": "nucleotide"
}