{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041599",
  "communityStandardTitle": [
    "NM_014363.6(SACS):c.12540del (p.Glu4180AspfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358139[alleleid]",
        "alleleId": 358139,
        "preferredName": "NM_014363.6(SACS):c.12540del (p.Glu4180fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370248",
        "RCV": [
          "RCV000412310"
        ],
        "variationId": 370248
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23905475del?assembly=hg19",
        "id": "chr13:g.23905475del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23331336del?assembly=hg38",
        "id": "chr13:g.23331336del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516347",
        "rs": 1057516347
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 23331337,
          "referenceAllele": "T",
          "start": 23331336
        }
      ],
      "hgvs": [
        "NC_000013.11:g.23331337del",
        "CM000675.2:g.23331337del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 23905476,
          "referenceAllele": "T",
          "start": 23905475
        }
      ],
      "hgvs": [
        "NC_000013.10:g.23905476del",
        "CM000675.1:g.23905476del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 22803476,
          "referenceAllele": "T",
          "start": 22803475
        }
      ],
      "hgvs": [
        "NC_000013.9:g.22803476del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 107367,
          "referenceAllele": "A",
          "start": 107366
        }
      ],
      "hgvs": [
        "NG_012342.1:g.107367del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002379"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 19220,
          "referenceAllele": "A",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 19221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682775.1:c.2186-19221del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508399.1:n.2186-19221del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827764"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13206,
          "referenceAllele": "A",
          "start": 13205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682944.1:c.12567del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507173.1:p.Glu4189AspfsTer?",
        "hgvsWellDefined": "ENSP00000507173.1:p.[Glu4189_Val4191delinsAspMetLeu;Tyr4193Thr;Val4195_Asp4201delinsLeuMetLeuLysValVal;Tyr4203_Tyr4210delinsSerMetAspHisThrSerGlnHis;Tyr4212_Val4219delinsHisMetGlnLeuLeuTyrLysLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827932"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 22449,
          "referenceAllele": "A",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 22448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683210.1:c.2185+22449del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506739.1:n.2185+22449del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828192"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6574,
          "endIntronDirection": "-",
          "endIntronOffset": 1851,
          "referenceAllele": "A",
          "start": 6574,
          "startIntronDirection": "-",
          "startIntronOffset": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683270.1:c.6446-1852del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507624.1:n.6446-1852del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828251"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2414,
          "endIntronDirection": "-",
          "endIntronOffset": 1851,
          "referenceAllele": "A",
          "start": 2414,
          "startIntronDirection": "-",
          "startIntronOffset": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683367.1:c.2177-1852del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507780.1:n.2177-1852del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828347"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2930,
          "endIntronDirection": "-",
          "endIntronOffset": 1383,
          "referenceAllele": "A",
          "start": 2930,
          "startIntronDirection": "-",
          "startIntronOffset": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683489.1:c.2292-1384del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508403.1:n.2292-1384del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828463"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2957,
          "endIntronDirection": "-",
          "endIntronOffset": 1383,
          "referenceAllele": "A",
          "start": 2957,
          "startIntronDirection": "-",
          "startIntronOffset": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683680.1:c.2319-1384del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507223.1:n.2319-1384del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828651"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2355,
          "endIntronDirection": "-",
          "endIntronOffset": 1851,
          "referenceAllele": "A",
          "start": 2355,
          "startIntronDirection": "-",
          "startIntronOffset": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684163.1:c.2204-1852del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508262.1:n.2204-1852del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829121"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4542,
          "endIntronDirection": "-",
          "endIntronOffset": 1851,
          "referenceAllele": "A",
          "start": 4542,
          "startIntronDirection": "-",
          "startIntronOffset": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684196.1:n.4543-1852del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829154"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 9661,
          "referenceAllele": "A",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 9662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684325.1:c.2186-9662del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508121.1:n.2186-9662del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829280"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2859,
          "endIntronDirection": "-",
          "endIntronOffset": 1851,
          "referenceAllele": "A",
          "start": 2859,
          "startIntronDirection": "-",
          "startIntronOffset": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684385.1:c.2221-1852del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507855.1:n.2221-1852del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829340"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 8691,
          "referenceAllele": "A",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 8692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684497.1:c.2186-8692del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507057.1:n.2186-8692del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829451"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13129,
          "referenceAllele": "A",
          "start": 13128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.9:c.12540del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Glu4180AspfsTer?",
        "hgvsWellDefined": "ENSP00000371729.3:p.[Glu4180_Val4182delinsAspMetLeu;Tyr4184Thr;Val4186_Asp4192delinsLeuMetLeuLysValVal;Tyr4194_Tyr4201delinsSerMetAspHisThrSerGlnHis;Tyr4203_Val4210delinsHisMetGlnLeuLeuTyrLysLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752641",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.12540del"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.12540del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Glu4180AspfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Glu4180AspfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2812,
          "endIntronDirection": "-",
          "endIntronOffset": 1851,
          "referenceAllele": "A",
          "start": 2812,
          "startIntronDirection": "-",
          "startIntronOffset": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.2:c.2186-1852del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.2:n.2186-1852del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754964"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3019,
          "endIntronDirection": "-",
          "endIntronOffset": 1851,
          "referenceAllele": "A",
          "start": 3019,
          "startIntronDirection": "-",
          "startIntronOffset": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.6:c.2432-1852del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406565.2:n.2432-1852del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756513"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 12814,
          "referenceAllele": "A",
          "start": 12813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.7:c.12540del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Glu4180AspfsTer?",
        "hgvsWellDefined": "ENSP00000371729.3:p.[Glu4180_Val4182delinsAspMetLeu;Tyr4184Thr;Val4186_Asp4192delinsLeuMetLeuLysValVal;Tyr4194_Tyr4201delinsSerMetAspHisThrSerGlnHis;Tyr4203_Val4210delinsHisMetGlnLeuLeuTyrLysLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273693"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13155,
          "referenceAllele": "A",
          "start": 13154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382298.7:c.12540del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371735.3:p.Glu4180AspfsTer?",
        "hgvsWellDefined": "ENSP00000371735.3:p.[Glu4180_Val4182delinsAspMetLeu;Tyr4184Thr;Val4186_Asp4192delinsLeuMetLeuLysValVal;Tyr4194_Tyr4201delinsSerMetAspHisThrSerGlnHis;Tyr4203_Val4210delinsHisMetGlnLeuLeuTyrLysLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273698"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 12624,
          "referenceAllele": "A",
          "start": 12623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000402364.1:c.10290del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385844.1:p.Glu3430AspfsTer?",
        "hgvsWellDefined": "ENSP00000385844.1:p.[Glu3430_Val3432delinsAspMetLeu;Tyr3434Thr;Val3436_Asp3442delinsLeuMetLeuLysValVal;Tyr3444_Tyr3451delinsSerMetAspHisThrSerGlnHis;Tyr3453_Val3460delinsHisMetGlnLeuLeuTyrLysLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279490"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1057,
          "endIntronDirection": "-",
          "endIntronOffset": 1851,
          "referenceAllele": "A",
          "start": 1057,
          "startIntronDirection": "-",
          "startIntronOffset": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.1:c.1058-1852del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.1:n.1058-1852del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287621"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2129,
          "endIntronDirection": "-",
          "endIntronOffset": 1851,
          "referenceAllele": "A",
          "start": 2129,
          "startIntronDirection": "-",
          "startIntronOffset": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.5:c.2130-1852del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303060"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 12624,
          "referenceAllele": "A",
          "start": 12623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.1:c.12099del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Glu4033AspfsTer?",
        "hgvsWellDefined": "NP_001264984.1:p.[Glu4033_Val4035delinsAspMetLeu;Tyr4037Thr;Val4039_Asp4045delinsLeuMetLeuLysValVal;Tyr4047_Tyr4054delinsSerMetAspHisThrSerGlnHis;Tyr4056_Val4063delinsHisMetGlnLeuLeuTyrLysLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021054"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13155,
          "referenceAllele": "A",
          "start": 13154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.5:c.12540del"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Glu4180AspfsTer?",
        "hgvsWellDefined": "NP_055178.3:p.[Glu4180_Val4182delinsAspMetLeu;Tyr4184Thr;Val4186_Asp4192delinsLeuMetLeuLysValVal;Tyr4194_Tyr4201delinsSerMetAspHisThrSerGlnHis;Tyr4203_Val4210delinsHisMetGlnLeuLeuTyrLysLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033115"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13182,
          "referenceAllele": "A",
          "start": 13181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.1:c.12567del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Glu4189AspfsTer?",
        "hgvsWellDefined": "XP_005266395.1:p.[Glu4189_Val4191delinsAspMetLeu;Tyr4193Thr;Val4195_Asp4201delinsLeuMetLeuLysValVal;Tyr4203_Tyr4210delinsSerMetAspHisThrSerGlnHis;Tyr4212_Val4219delinsHisMetGlnLeuLeuTyrLysLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 12609,
          "referenceAllele": "A",
          "start": 12608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535038.1:c.12591del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533340.1:p.Glu4197AspfsTer?",
        "hgvsWellDefined": "XP_011533340.1:p.[Glu4197_Val4199delinsAspMetLeu;Tyr4201Thr;Val4203_Asp4209delinsLeuMetLeuLysValVal;Tyr4211_Tyr4218delinsSerMetAspHisThrSerGlnHis;Tyr4220_Val4227delinsHisMetGlnLeuLeuTyrLysLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102048"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 12679,
          "referenceAllele": "A",
          "start": 12678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.1:c.12558del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Glu4186AspfsTer?",
        "hgvsWellDefined": "XP_011533341.1:p.[Glu4186_Val4188delinsAspMetLeu;Tyr4190Thr;Val4192_Asp4198delinsLeuMetLeuLysValVal;Tyr4200_Tyr4207delinsSerMetAspHisThrSerGlnHis;Tyr4209_Val4216delinsHisMetGlnLeuLeuTyrLysLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102049"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13182,
          "referenceAllele": "A",
          "start": 13181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.2:c.12567del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Glu4189AspfsTer?",
        "hgvsWellDefined": "XP_005266395.1:p.[Glu4189_Val4191delinsAspMetLeu;Tyr4193Thr;Val4195_Asp4201delinsLeuMetLeuLysValVal;Tyr4203_Tyr4210delinsSerMetAspHisThrSerGlnHis;Tyr4212_Val4219delinsHisMetGlnLeuLeuTyrLysLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536218"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 12790,
          "referenceAllele": "A",
          "start": 12789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.2:c.12558del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Glu4186AspfsTer?",
        "hgvsWellDefined": "XP_011533341.1:p.[Glu4186_Val4188delinsAspMetLeu;Tyr4190Thr;Val4192_Asp4198delinsLeuMetLeuLysValVal;Tyr4200_Tyr4207delinsSerMetAspHisThrSerGlnHis;Tyr4209_Val4216delinsHisMetGlnLeuLeuTyrLysLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551886"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 12763,
          "referenceAllele": "A",
          "start": 12762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_017020539.1:c.12531del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876028.1:p.Glu4177AspfsTer?",
        "hgvsWellDefined": "XP_016876028.1:p.[Glu4177_Val4179delinsAspMetLeu;Tyr4181Thr;Val4183_Asp4189delinsLeuMetLeuLysValVal;Tyr4191_Tyr4198delinsSerMetAspHisThrSerGlnHis;Tyr4200_Val4207delinsHisMetGlnLeuLeuTyrLysLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13206,
          "referenceAllele": "A",
          "start": 13205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.12567del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Glu4189AspfsTer?",
        "hgvsWellDefined": "XP_024305105.1:p.[Glu4189_Val4191delinsAspMetLeu;Tyr4193Thr;Val4195_Asp4201delinsLeuMetLeuLysValVal;Tyr4203_Tyr4210delinsSerMetAspHisThrSerGlnHis;Tyr4212_Val4219delinsHisMetGlnLeuLeuTyrLysLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13129,
          "referenceAllele": "A",
          "start": 13128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.12540del"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Glu4180AspfsTer?",
        "hgvsWellDefined": "NP_055178.3:p.[Glu4180_Val4182delinsAspMetLeu;Tyr4184Thr;Val4186_Asp4192delinsLeuMetLeuLysValVal;Tyr4194_Tyr4201delinsSerMetAspHisThrSerGlnHis;Tyr4203_Val4210delinsHisMetGlnLeuLeuTyrLysLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.12540del"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.12540del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Glu4180AspfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Glu4180AspfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 12589,
          "referenceAllele": "A",
          "start": 12588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.2:c.12099del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Glu4033AspfsTer?",
        "hgvsWellDefined": "NP_001264984.1:p.[Glu4033_Val4035delinsAspMetLeu;Tyr4037Thr;Val4039_Asp4045delinsLeuMetLeuLysValVal;Tyr4047_Tyr4054delinsSerMetAspHisThrSerGlnHis;Tyr4056_Val4063delinsHisMetGlnLeuLeuTyrLysLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}