{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA252468",
  "communityStandardTitle": [
    "NM_000019.4(ACAT1):c.1083dup (p.Ala362SerfsTer4)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17881[alleleid]",
        "alleleId": 17881,
        "preferredName": "NM_000019.4(ACAT1):c.1083dup (p.Ala362fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2842",
        "RCV": [
          "RCV000002976"
        ],
        "variationId": 2842
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108017006dupA?assembly=hg19",
        "id": "chr11:g.108017006dupA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108146279dupA?assembly=hg38",
        "id": "chr11:g.108146279dupA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906283",
        "rs": 387906283
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 108146279,
          "referenceAllele": "",
          "start": 108146279
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108146279dup",
        "CM000673.2:g.108146279dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 108017006,
          "referenceAllele": "",
          "start": 108017006
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108017006dup",
        "CM000673.1:g.108017006dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 107522216,
          "referenceAllele": "",
          "start": 107522216
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107522216dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 29749,
          "referenceAllele": "",
          "start": 29749
        }
      ],
      "hgvs": [
        "NG_009888.1:g.29749dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34575,
          "referenceAllele": "",
          "start": 34575
        }
      ],
      "hgvs": [
        "NG_009888.2:g.34575dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706100"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1123,
          "referenceAllele": "",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000265838.9:c.1083dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265838.4:p.Ala362SerfsTer4",
        "hgvsWellDefined": "ENSP00000265838.4:p.[Ala362_Ile364delinsSer;Met366_Gly384del;Pro386_Gly391del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742890",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265838.9:c.1083dup"
          },
          "RefSeq": {
            "hgvs": "NM_000019.4:c.1083dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265838.4:p.Ala362SerfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_000010.1:p.Ala362SerfsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1178,
          "referenceAllele": "",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000671707.1:n.1178dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1058,
          "referenceAllele": "",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672031.1:c.*70dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500463.1:n.*70dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1219,
          "referenceAllele": "",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672284.1:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500444.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "ENSP00000500444.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1118,
          "referenceAllele": "",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672354.1:c.1083dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500490.1:p.Ala362SerfsTer4",
        "hgvsWellDefined": "ENSP00000500490.1:p.[Ala362_Ile364delinsSer;Met366_Gly384del;Pro386_Phe391del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 760,
          "referenceAllele": "",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672367.1:c.720dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500209.1:p.Ala241SerfsTer4",
        "hgvsWellDefined": "ENSP00000500209.1:p.[Ala241_Ile243delinsSer;Met245_Gly263del;Pro265_Gly270del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672580.1:c.*338dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500366.1:n.*338dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 808,
          "referenceAllele": "",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672907.1:c.768dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500928.1:p.Ala257SerfsTer4",
        "hgvsWellDefined": "ENSP00000500928.1:p.[Ala257_Ile259delinsSer;Met261_Gly279del;Pro281_Gly286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000673000.1:n.1171dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773569"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1217,
          "referenceAllele": "",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000673531.1:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500163.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "ENSP00000500163.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1174,
          "referenceAllele": "",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000265838.8:c.1083dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265838.4:p.Ala362SerfsTer4",
        "hgvsWellDefined": "ENSP00000265838.4:p.[Ala362_Ile364delinsSer;Met366_Gly384del;Pro386_Gly391del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 159,
          "referenceAllele": "",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000533597.1:n.159dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1159,
          "referenceAllele": "",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_000019.3:c.1083dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000010.1:p.Ala362SerfsTer4",
        "hgvsWellDefined": "NP_000010.1:p.[Ala362_Ile364delinsSer;Met366_Gly384del;Pro386_Gly391del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1100,
          "referenceAllele": "",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_006718834.2:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718897.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "XP_006718897.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_006718835.2:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718898.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "XP_006718898.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072815"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_006718835.3:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718898.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "XP_006718898.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1238,
          "referenceAllele": "",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_017017681.1:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873170.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "XP_016873170.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1022,
          "referenceAllele": "",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_017017682.2:c.705dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873171.1:p.Ala236SerfsTer4",
        "hgvsWellDefined": "XP_016873171.1:p.[Ala236_Ile238delinsSer;Met240_Gly258del;Pro260_Gly265del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569807"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1115,
          "referenceAllele": "",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_017017683.2:c.705dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873172.1:p.Ala236SerfsTer4",
        "hgvsWellDefined": "XP_016873172.1:p.[Ala236_Ile238delinsSer;Met240_Gly258del;Pro260_Gly265del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1231,
          "referenceAllele": "",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_024448511.1:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304279.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "XP_024304279.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1209,
          "referenceAllele": "",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_024448512.1:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304280.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "XP_024304280.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1109,
          "referenceAllele": "",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_024448513.1:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304281.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "XP_024304281.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1315,
          "referenceAllele": "",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_024448514.1:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304282.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "XP_024304282.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1110,
          "referenceAllele": "",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_024448515.1:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304283.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "XP_024304283.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1123,
          "referenceAllele": "",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_000019.4:c.1083dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000010.1:p.Ala362SerfsTer4",
        "hgvsWellDefined": "NP_000010.1:p.[Ala362_Ile364delinsSer;Met366_Gly384del;Pro386_Gly391del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674670",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265838.9:c.1083dup"
          },
          "RefSeq": {
            "hgvs": "NM_000019.4:c.1083dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265838.4:p.Ala362SerfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_000010.1:p.Ala362SerfsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1123,
          "referenceAllele": "",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386677.1:c.1083dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373606.1:p.Ala362SerfsTer4",
        "hgvsWellDefined": "NP_001373606.1:p.[Ala362_Ile364delinsSer;Met366_Gly384del;Pro386_Phe391del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 808,
          "referenceAllele": "",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386678.1:c.768dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373607.1:p.Ala257SerfsTer4",
        "hgvsWellDefined": "NP_001373607.1:p.[Ala257_Ile259delinsSer;Met261_Gly279del;Pro281_Gly286del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1103,
          "referenceAllele": "",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386679.1:c.786dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373608.1:p.Ala263SerfsTer4",
        "hgvsWellDefined": "NP_001373608.1:p.[Ala263_Ile265delinsSer;Met267_Gly285del;Pro287_Gly292del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724569"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1209,
          "referenceAllele": "",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386681.1:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373610.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "NP_001373610.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1426,
          "referenceAllele": "",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386682.1:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373611.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "NP_001373611.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1217,
          "referenceAllele": "",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386685.1:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373614.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "NP_001373614.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724572"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1222,
          "referenceAllele": "",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386686.1:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373615.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "NP_001373615.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1236,
          "referenceAllele": "",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386687.1:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373616.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "NP_001373616.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1241,
          "referenceAllele": "",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386688.1:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373617.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "NP_001373617.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1109,
          "referenceAllele": "",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386689.1:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373618.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "NP_001373618.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386690.1:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373619.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "NP_001373619.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1420,
          "referenceAllele": "",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386691.1:c.813dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373620.1:p.Ala272SerfsTer4",
        "hgvsWellDefined": "NP_001373620.1:p.[Ala272_Ile274delinsSer;Met276_Gly294del;Pro296_Gly301del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1058,
          "referenceAllele": "",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NR_170162.1:n.1058dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1116,
          "referenceAllele": "",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NR_170163.1:n.1116dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732464"
    }
  ],
  "type": "nucleotide"
}