{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041811",
  "communityStandardTitle": [
    "NM_000382.3(ALDH3A2):c.769dup (p.Ile257AsnfsTer6)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358400[alleleid]",
        "alleleId": 358400,
        "preferredName": "NM_000382.3(ALDH3A2):c.769dup (p.Ile257fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371336",
        "RCV": [
          "RCV000412314"
        ],
        "variationId": 371336
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.19561146dupA?assembly=hg19",
        "id": "chr17:g.19561146dupA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.19657833dupA?assembly=hg38",
        "id": "chr17:g.19657833dupA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517190",
        "rs": 1057517190
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-19657830-C-CA?dataset=gnomad_r4",
        "id": "17-19657830-C-CA",
        "variant": "17:19657830 C / CA"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 19657833,
          "referenceAllele": "",
          "start": 19657833
        }
      ],
      "hgvs": [
        "NC_000017.11:g.19657833dup",
        "CM000679.2:g.19657833dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 19561146,
          "referenceAllele": "",
          "start": 19561146
        }
      ],
      "hgvs": [
        "NC_000017.10:g.19561146dup",
        "CM000679.1:g.19561146dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 19501738,
          "referenceAllele": "",
          "start": 19501738
        }
      ],
      "hgvs": [
        "NC_000017.9:g.19501738dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14083,
          "referenceAllele": "",
          "start": 14083
        }
      ],
      "hgvs": [
        "NG_007095.2:g.14083dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000476"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "referenceAllele": "",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000176643.11:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000176643.6:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "ENSP00000176643.6:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740084",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000176643.11:c.769dup"
          },
          "RefSeq": {
            "hgvs": "NM_000382.3:c.769dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000176643.6:p.Ile257AsnfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_000373.1:p.Ile257AsnfsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 657,
          "endIntronDirection": "-",
          "endIntronOffset": 3293,
          "referenceAllele": "",
          "start": 657,
          "startIntronDirection": "-",
          "startIntronOffset": 3293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000395575.7:c.472-3294dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378942.3:n.472-3294dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000472059.6:c.*327dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458397.1:n.*327dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 936,
          "referenceAllele": "",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000581518.6:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461916.2:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "ENSP00000461916.2:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760909"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 869,
          "referenceAllele": "",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000582991.6:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464153.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "ENSP00000464153.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2448,
          "referenceAllele": "",
          "start": 2448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000671841.1:n.2448dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773183"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 960,
          "referenceAllele": "",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000671878.1:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500516.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "ENSP00000500516.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1220,
          "referenceAllele": "",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672059.1:n.1220dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1840,
          "referenceAllele": "",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672322.1:n.1840dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672357.1:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500092.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "ENSP00000500092.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 898,
          "referenceAllele": "",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672465.1:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500517.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "ENSP00000500517.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773392"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 864,
          "endIntronDirection": "+",
          "endIntronOffset": 1259,
          "referenceAllele": "",
          "start": 864,
          "startIntronDirection": "+",
          "startIntronOffset": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672487.1:c.680+1259dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500740.1:n.680+1259dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "referenceAllele": "",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672564.1:n.990dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773416"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 660,
          "referenceAllele": "",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672567.1:c.660dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773418"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1758,
          "referenceAllele": "",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672608.1:n.1758dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773432"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 623,
          "referenceAllele": "",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672709.1:c.623dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 919,
          "referenceAllele": "",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000673136.1:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500380.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "ENSP00000500380.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773596"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1105,
          "referenceAllele": "",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000673472.1:n.1105dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773696"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1215,
          "referenceAllele": "",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000176643.10:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000176643.6:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "ENSP00000176643.6:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "referenceAllele": "",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000339618.8:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345774.4:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "ENSP00000345774.4:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000395575.6:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378942.2:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "ENSP00000378942.2:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276768"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000472059.5:c.*327dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458397.1:n.*327dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 519,
          "referenceAllele": "",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000476965.5:n.519dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 262,
          "referenceAllele": "",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000571537.1:c.262dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458942.1:p.Ile88AsnfsTer6",
        "hgvsWellDefined": "ENSP00000458942.1:p.[Ile88_Glu102del;Ile104_Lys105delinsCysMet;Ser107_Pro108del;Tyr110_Arg117del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 200,
          "referenceAllele": "",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000578696.1:c.200dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 868,
          "referenceAllele": "",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000579855.5:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463637.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "ENSP00000463637.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1018,
          "referenceAllele": "",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000581518.5:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461916.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "ENSP00000461916.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386826"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1018,
          "referenceAllele": "",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000582991.5:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464153.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "ENSP00000464153.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "referenceAllele": "",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000630662.2:c.-213dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487353.1:n.-213dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407399"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1215,
          "referenceAllele": "",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000631291.2:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486085.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "ENSP00000486085.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "referenceAllele": "",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_000382.2:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000373.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "NP_000373.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "referenceAllele": "",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001031806.1:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026976.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "NP_001026976.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 899,
          "referenceAllele": "",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_011523732.1:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522034.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "XP_011522034.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 936,
          "referenceAllele": "",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_011523733.1:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522035.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "XP_011522035.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_011523733.2:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522035.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "XP_011522035.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 792,
          "referenceAllele": "",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_017024355.1:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879844.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "XP_016879844.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 914,
          "referenceAllele": "",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_017024356.2:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879845.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "XP_016879845.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 899,
          "referenceAllele": "",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_017024357.1:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879846.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "XP_016879846.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 898,
          "referenceAllele": "",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_017024358.2:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879847.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "XP_016879847.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 669,
          "referenceAllele": "",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_024450651.1:c.190dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306419.1:p.Ile64AsnfsTer6",
        "hgvsWellDefined": "XP_024306419.1:p.[Ile64_Glu78del;Ile80_Lys81delinsCysMet;Ser83_Pro84del;Tyr86_Arg93del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1002,
          "referenceAllele": "",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_024450652.1:c.190dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306420.1:p.Ile64AsnfsTer6",
        "hgvsWellDefined": "XP_024306420.1:p.[Ile64_Glu78del;Ile80_Lys81delinsCysMet;Ser83_Pro84del;Tyr86_Arg93del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584186"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "referenceAllele": "",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_000382.3:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000373.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "NP_000373.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674821",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000176643.11:c.769dup"
          },
          "RefSeq": {
            "hgvs": "NM_000382.3:c.769dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000176643.6:p.Ile257AsnfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_000373.1:p.Ile257AsnfsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "referenceAllele": "",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001031806.2:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026976.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "NP_001026976.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 899,
          "referenceAllele": "",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369136.1:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356065.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "NP_001356065.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691563"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 922,
          "referenceAllele": "",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369137.1:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356066.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "NP_001356066.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 922,
          "referenceAllele": "",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369138.1:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356067.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "NP_001356067.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 899,
          "referenceAllele": "",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369139.1:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356068.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "NP_001356068.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 922,
          "referenceAllele": "",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369146.1:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356075.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "NP_001356075.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1031,
          "referenceAllele": "",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369148.1:c.190dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356077.1:p.Ile64AsnfsTer6",
        "hgvsWellDefined": "NP_001356077.1:p.[Ile64_Glu78del;Ile80_Lys81delinsCysMet;Ser83_Pro84del;Tyr86_Arg93del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691569"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 936,
          "referenceAllele": "",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369137.2:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356066.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "NP_001356066.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 936,
          "referenceAllele": "",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369138.2:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356067.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "NP_001356067.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721138"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 936,
          "referenceAllele": "",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369146.2:c.769dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356075.1:p.Ile257AsnfsTer6",
        "hgvsWellDefined": "NP_001356075.1:p.[Ile257_Glu271del;Ile273_Lys274delinsCysMet;Ser276_Pro277del;Tyr279_Arg286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1045,
          "referenceAllele": "",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369148.2:c.190dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356077.1:p.Ile64AsnfsTer6",
        "hgvsWellDefined": "NP_001356077.1:p.[Ile64_Glu78del;Ile80_Lys81delinsCysMet;Ser83_Pro84del;Tyr86_Arg93del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721140"
    }
  ],
  "type": "nucleotide"
}