{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393510499",
  "communityStandardTitle": [
    "NM_000126.4(ETFA):c.793C>T (p.Gln265Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1063423[alleleid]",
        "alleleId": 1063423,
        "preferredName": "NM_000126.4(ETFA):c.793C>T (p.Gln265Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1069254",
        "RCV": [
          "RCV001381065"
        ],
        "variationId": 1069254
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.76566776G>A?assembly=hg19",
        "id": "chr15:g.76566776G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.76274435G>A?assembly=hg38",
        "id": "chr15:g.76274435G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/757409121",
        "rs": 757409121
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 76274435,
          "referenceAllele": "G",
          "start": 76274434
        }
      ],
      "hgvs": [
        "NC_000015.10:g.76274435G>A",
        "CM000677.2:g.76274435G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 76566776,
          "referenceAllele": "G",
          "start": 76566775
        }
      ],
      "hgvs": [
        "NC_000015.9:g.76566776G>A",
        "CM000677.1:g.76566776G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 74353831,
          "referenceAllele": "G",
          "start": 74353830
        }
      ],
      "hgvs": [
        "NC_000015.8:g.74353831G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42035,
          "referenceAllele": "C",
          "start": 42034
        }
      ],
      "hgvs": [
        "NG_007077.2:g.42035C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000457"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 874,
          "referenceAllele": "C",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000559386.2:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452777.2:p.Gln265Ter",
        "hgvsWellDefined": "ENSP00000452777.2:p.Gln265_Ser301delinsThrGlyLysIleValAlaProMetGluSerHisSerThrAlaGlnAlaGlyValGlnTrpCysHisLeuGlyPheLysGlnPheSerCysLeuSerLeuProSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1007,
          "referenceAllele": "C",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000560044.6:c.*788C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452942.1:n.*788C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000560595.6:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453345.2:p.Gln338Ter",
        "hgvsWellDefined": "ENSP00000453345.2:p.Gln338_Lys406delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826077"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000565910.6:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458001.2:p.Gln265Ter",
        "hgvsWellDefined": "ENSP00000458001.2:p.Gln265_Leu318delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysLeuProGlyLeuTyrHisValProIleLeuAspIleLeuAlaSerSerAlaHisLeuSerGluGluProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 977,
          "referenceAllele": "C",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000685118.1:c.*788C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509473.1:n.*788C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000685548.1:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510343.1:p.Gln265Ter",
        "hgvsWellDefined": "ENSP00000510343.1:p.Gln265_Leu324delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysArgTrpGlyLeuProValLeuArgArgLeuValLeuAsnAlaTrpAlaGluValIleLeuProLeuProProProLysValLeuGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000685863.1:c.577C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509361.1:p.Gln193Ter",
        "hgvsWellDefined": "ENSP00000509361.1:p.Gln193_Lys261delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1210,
          "referenceAllele": "C",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000687293.1:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509928.1:p.Gln290Ter",
        "hgvsWellDefined": "ENSP00000509928.1:p.Gln290_Lys358delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 959,
          "referenceAllele": "C",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000687975.1:c.*669C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508690.1:n.*669C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 874,
          "referenceAllele": "C",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000688154.1:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510637.1:p.Gln265Ter",
        "hgvsWellDefined": "ENSP00000510637.1:p.Gln265_Leu324delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysArgTrpGlyLeuProValLeuArgArgLeuValLeuAsnAlaTrpAlaGluValIleLeuProLeuProProProLysValLeuGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000688389.1:c.724C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510491.1:p.Gln242Ter",
        "hgvsWellDefined": "ENSP00000510491.1:p.Gln242_Lys310delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831601"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 874,
          "referenceAllele": "C",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000688637.1:n.874C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "C",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000688908.1:c.628C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510242.1:p.Gln210Ter",
        "hgvsWellDefined": "ENSP00000510242.1:p.Gln210_Lys278delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 856,
          "referenceAllele": "C",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000689730.1:c.775C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510006.1:p.Gln259Ter",
        "hgvsWellDefined": "ENSP00000510006.1:p.Gln259_Lys327delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 805,
          "referenceAllele": "C",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000689739.1:n.805C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 880,
          "referenceAllele": "C",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000690610.1:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510473.1:p.Gln265Ter",
        "hgvsWellDefined": "ENSP00000510473.1:p.Gln265_Lys333delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1010,
          "referenceAllele": "C",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000691021.1:c.*788C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510805.1:n.*788C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "referenceAllele": "C",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000691071.1:n.572C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "referenceAllele": "C",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000691695.1:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509402.1:p.Gln216Ter",
        "hgvsWellDefined": "ENSP00000509402.1:p.Gln216_Ser252delinsThrGlyLysIleValAlaProMetGluSerHisSerThrAlaGlnAlaGlyValGlnTrpCysHisLeuGlyPheLysGlnPheSerCysLeuSerLeuProSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1258,
          "referenceAllele": "C",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000692691.1:c.916C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508808.1:p.Gln306Ter",
        "hgvsWellDefined": "ENSP00000508808.1:p.Gln306_Lys374delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 954,
          "referenceAllele": "C",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000693064.1:c.*768C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510720.1:n.*768C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 874,
          "referenceAllele": "C",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000557943.6:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452762.1:p.Gln265Ter",
        "hgvsWellDefined": "ENSP00000452762.1:p.Gln265_Lys333delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760224",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000557943.6:c.793C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000126.4:c.793C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452762.1:p.Gln265Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000117.1:p.Gln265Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 771,
          "referenceAllele": "C",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000267950.12:c.*516C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267950.8:n.*516C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000433983.6:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399273.2:p.Gln216Ter",
        "hgvsWellDefined": "ENSP00000399273.2:p.Gln216_Lys284delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 874,
          "referenceAllele": "C",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000557943.5:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452762.1:p.Gln265Ter",
        "hgvsWellDefined": "ENSP00000452762.1:p.Gln265_Lys333delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 145,
          "referenceAllele": "C",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000558803.1:n.145C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 817,
          "referenceAllele": "C",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000559075.5:n.817C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000559602.5:c.481C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452659.1:p.Gln161Ter",
        "hgvsWellDefined": "ENSP00000452659.1:p.Gln161_Lys229delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "referenceAllele": "C",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000559758.5:n.634C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "referenceAllele": "C",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000559973.5:c.503C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1010,
          "referenceAllele": "C",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000560044.5:c.*788C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452942.1:n.*788C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 701,
          "referenceAllele": "C",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000560345.5:c.701C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 732,
          "referenceAllele": "C",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000560595.5:c.724C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453345.1:p.Gln242Ter",
        "hgvsWellDefined": "ENSP00000453345.1:p.Gln242_Met303del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375465"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000560726.5:c.13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453098.1:p.Gln5Ter",
        "hgvsWellDefined": "ENSP00000453098.1:p.Gln5_Lys73delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000560816.5:n.352C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 590,
          "referenceAllele": "C",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "ENST00000560899.5:c.13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453422.1:p.Gln5Ter",
        "hgvsWellDefined": "ENSP00000453422.1:p.Gln5_Asp39delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysHisValSerLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499228621",
      "coordinates": [
        {
          "allele": "T",
          "end": 874,
          "referenceAllele": "C",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "NM_000126.3:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000117.1:p.Gln265Ter",
        "hgvsWellDefined": "NP_000117.1:p.Gln265_Lys333delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006188"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825658692",
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "referenceAllele": "C",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "NM_001127716.1:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121188.1:p.Gln216Ter",
        "hgvsWellDefined": "NP_001121188.1:p.Gln216_Lys284delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 848,
          "referenceAllele": "C",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "XR_931766.1:n.848C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 874,
          "referenceAllele": "C",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "XR_931766.3:n.874C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499228621",
      "coordinates": [
        {
          "allele": "T",
          "end": 874,
          "referenceAllele": "C",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "NM_000126.4:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000117.1:p.Gln265Ter",
        "hgvsWellDefined": "NP_000117.1:p.Gln265_Lys333delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000557943.6:c.793C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000126.4:c.793C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452762.1:p.Gln265Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000117.1:p.Gln265Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825658692",
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "referenceAllele": "C",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "NM_001127716.2:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121188.1:p.Gln216Ter",
        "hgvsWellDefined": "NP_001121188.1:p.Gln216_Lys284delinsThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712230"
    }
  ],
  "type": "nucleotide"
}