{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043042",
  "communityStandardTitle": [
    "NM_000018.4(ACADVL):c.316_325del (p.Val106CysfsTer8)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360328[alleleid]",
        "alleleId": 360328,
        "preferredName": "NM_000018.4(ACADVL):c.316_325del (p.Val106fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373614",
        "RCV": [
          "RCV000412713",
          "RCV002286572"
        ],
        "variationId": 373614
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7124123_7124132del?assembly=hg19",
        "id": "chr17:g.7124123_7124132del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7220804_7220813del?assembly=hg38",
        "id": "chr17:g.7220804_7220813del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518506",
        "rs": 1057518506
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 7220813,
          "referenceAllele": "GTGGAGCCTG",
          "start": 7220803
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7220804_7220813del",
        "CM000679.2:g.7220804_7220813del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 7124132,
          "referenceAllele": "GTGGAGCCTG",
          "start": 7124122
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7124123_7124132del",
        "CM000679.1:g.7124123_7124132del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 7064856,
          "referenceAllele": "GTGGAGCCTG",
          "start": 7064846
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7064847_7064856del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5980,
          "referenceAllele": "GTGGAGCCTG",
          "start": 5970
        }
      ],
      "hgvs": [
        "NG_007975.1:g.5971_5980del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000743"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4250,
          "referenceAllele": "CCACCAGGCT",
          "start": 4240
        }
      ],
      "hgvs": [
        "NG_008391.2:g.4241_4250del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 372,
          "referenceAllele": "GTGGAGCCTG",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.10:c.316_325del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Val106CysfsTer8",
        "hgvsWellDefined": "ENSP00000349297.5:p.[Val106_Glu107delinsCys;Arg111_Ala120delinsSerArg;Asn122_Glu138del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.316_325del"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.316_325del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Val106CysfsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Val106CysfsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 541,
          "referenceAllele": "GTGGAGCCTG",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000322910.9:c.*271_*280del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325395.5:n.*271_*280del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258139"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 381,
          "referenceAllele": "GTGGAGCCTG",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000350303.9:c.250_259del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344152.5:p.Val84CysfsTer8",
        "hgvsWellDefined": "ENSP00000344152.5:p.[Val84_Glu85delinsCys;Arg89_Ala98delinsSerArg;Asn100_Glu116del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262675"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 504,
          "referenceAllele": "GTGGAGCCTG",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.9:c.316_325del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Val106CysfsTer8",
        "hgvsWellDefined": "ENSP00000349297.5:p.[Val106_Glu107delinsCys;Arg111_Ala120delinsSerArg;Asn122_Glu138del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263893"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 415,
          "referenceAllele": "GTGGAGCCTG",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000543245.6:c.385_394del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438689.2:p.Val129CysfsTer8",
        "hgvsWellDefined": "ENSP00000438689.2:p.[Val129_Glu130delinsCys;Arg134_Ala143delinsSerArg;Asn145_Glu161del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363908"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 402,
          "referenceAllele": "GTGGAGCCTG",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000577191.5:n.393_402del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384749"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 533,
          "referenceAllele": "GTGGAGCCTG",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000577433.5:n.524_533del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384862"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 276,
          "referenceAllele": "GTGGAGCCTG",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000577857.5:n.267_276del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385072"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 506,
          "referenceAllele": "GTGGAGCCTG",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579286.5:n.497_506del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385769"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 238,
          "endIntronDirection": "-",
          "endIntronOffset": 131,
          "referenceAllele": "GTGGAGCCTG",
          "start": 238,
          "startIntronDirection": "-",
          "startIntronOffset": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579886.2:c.202-141_202-132del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463246.1:n.202-141_202-132del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386052"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 56,
          "referenceAllele": "GTGGAGCCTG",
          "start": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000580365.1:n.47_56del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386296"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 24,
          "referenceAllele": "GTGGAGCCTG",
          "start": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000581378.5:c.15_24del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386757"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 372,
          "referenceAllele": "GTGGAGCCTG",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000581562.5:n.363_372del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386851"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 415,
          "referenceAllele": "GTGGAGCCTG",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000582056.5:n.406_415del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387086"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 213,
          "referenceAllele": "GTGGAGCCTG",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000582166.1:n.204_213del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387137"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 524,
          "referenceAllele": "GTGGAGCCTG",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000582356.5:n.515_524del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387231"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 450,
          "referenceAllele": "GTGGAGCCTG",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583312.5:c.316_325del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467920.1:p.Val106CysfsTer8",
        "hgvsWellDefined": "ENSP00000467920.1:p.[Val106_Glu107delinsCys;Arg111_Ala120delinsSerArg;Asn122_Glu138del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387693"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 407,
          "referenceAllele": "GTGGAGCCTG",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000584103.5:c.316_325del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465353.1:p.Val106CysfsTer19",
        "hgvsWellDefined": "ENSP00000465353.1:p.[Val106_Glu107delinsCys;Arg111_Pro116delinsSerArgSerLeuAspVal;Cys118_Leu121delinsSer;Leu123_Asp129delinsAlaPhe;Ala131Arg;Asn133_Met138del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388066"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 479,
          "referenceAllele": "GTGGAGCCTG",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.3:c.316_325del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Val106CysfsTer8",
        "hgvsWellDefined": "NP_000009.1:p.[Val106_Glu107delinsCys;Arg111_Ala120delinsSerArg;Asn122_Glu138del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006083"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 413,
          "referenceAllele": "GTGGAGCCTG",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.2:c.250_259del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Val84CysfsTer8",
        "hgvsWellDefined": "NP_001029031.1:p.[Val84_Glu85delinsCys;Arg89_Ala98delinsSerArg;Asn100_Glu116del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009170"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 415,
          "referenceAllele": "GTGGAGCCTG",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.1:c.385_394del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Val129CysfsTer8",
        "hgvsWellDefined": "NP_001257376.1:p.[Val129_Glu130delinsCys;Arg134_Ala143delinsSerArg;Asn145_Glu161del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020295"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 554,
          "referenceAllele": "GTGGAGCCTG",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.1:c.88_97del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Val30CysfsTer8",
        "hgvsWellDefined": "NP_001257377.1:p.[Val30_Glu31delinsCys;Arg35_Ala44delinsSerArg;Asn46_Glu62del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020296"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 432,
          "referenceAllele": "GTGGAGCCTG",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.2:c.316_325del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Val106CysfsTer8",
        "hgvsWellDefined": "XP_006721579.2:p.[Val106_Glu107delinsCys;Arg111_Ala120delinsSerArg;Asn122_Glu138del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074100"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 432,
          "referenceAllele": "GTGGAGCCTG",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.1:c.316_325del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Val106CysfsTer8",
        "hgvsWellDefined": "XP_011522131.1:p.[Val106_Glu107delinsCys;Arg111_Ala120delinsSerArg;Asn122_Glu138del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090962"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 432,
          "referenceAllele": "GTGGAGCCTG",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.1:c.316_325del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Val106CysfsTer8",
        "hgvsWellDefined": "XP_011522132.1:p.[Val106_Glu107delinsCys;Arg111_Ala120delinsSerArg;Asn122_Glu138del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090963"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 432,
          "referenceAllele": "GTGGAGCCTG",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.1:n.423_432del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129466"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 432,
          "referenceAllele": "GTGGAGCCTG",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.1:n.423_432del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129467"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 432,
          "referenceAllele": "GTGGAGCCTG",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.1:n.423_432del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129468"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 384,
          "referenceAllele": "GTGGAGCCTG",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.3:c.316_325del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Val106CysfsTer8",
        "hgvsWellDefined": "XP_006721579.2:p.[Val106_Glu107delinsCys;Arg111_Ala120delinsSerArg;Asn122_Glu138del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540308"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 384,
          "referenceAllele": "GTGGAGCCTG",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.2:c.316_325del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Val106CysfsTer8",
        "hgvsWellDefined": "XP_011522131.1:p.[Val106_Glu107delinsCys;Arg111_Ala120delinsSerArg;Asn122_Glu138del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547194"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 384,
          "referenceAllele": "GTGGAGCCTG",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.2:c.316_325del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Val106CysfsTer8",
        "hgvsWellDefined": "XP_011522132.1:p.[Val106_Glu107delinsCys;Arg111_Ala120delinsSerArg;Asn122_Glu138del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547195"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 384,
          "referenceAllele": "GTGGAGCCTG",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_024450741.1:c.316_325del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306509.1:p.Val106CysfsTer8",
        "hgvsWellDefined": "XP_024306509.1:p.[Val106_Glu107delinsCys;Arg111_Ala120delinsSerArg;Asn122_Glu138del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584272"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 384,
          "referenceAllele": "GTGGAGCCTG",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.2:n.375_384del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610564"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 384,
          "referenceAllele": "GTGGAGCCTG",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.2:n.375_384del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610565"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 384,
          "referenceAllele": "GTGGAGCCTG",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.2:n.375_384del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610566"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 372,
          "referenceAllele": "GTGGAGCCTG",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.4:c.316_325del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Val106CysfsTer8",
        "hgvsWellDefined": "NP_000009.1:p.[Val106_Glu107delinsCys;Arg111_Ala120delinsSerArg;Asn122_Glu138del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.316_325del"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.316_325del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Val106CysfsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Val106CysfsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 306,
          "referenceAllele": "GTGGAGCCTG",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.3:c.250_259del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Val84CysfsTer8",
        "hgvsWellDefined": "NP_001029031.1:p.[Val84_Glu85delinsCys;Arg89_Ala98delinsSerArg;Asn100_Glu116del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711542"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 415,
          "referenceAllele": "GTGGAGCCTG",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.2:c.385_394del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Val129CysfsTer8",
        "hgvsWellDefined": "NP_001257376.1:p.[Val129_Glu130delinsCys;Arg134_Ala143delinsSerArg;Asn145_Glu161del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715163"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 447,
          "referenceAllele": "GTGGAGCCTG",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.2:c.88_97del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Val30CysfsTer8",
        "hgvsWellDefined": "NP_001257377.1:p.[Val30_Glu31delinsCys;Arg35_Ala44delinsSerArg;Asn46_Glu62del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715164"
    }
  ],
  "type": "nucleotide"
}