{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3200700691",
  "communityStandardTitle": [
    "NM_014363.6(SACS):c.8844T= (p.Pro2948=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/281865117",
        "rs": 281865117
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2531139820",
        "rs": 2531139820
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 23335032,
          "referenceAllele": "A",
          "start": 23335031
        }
      ],
      "hgvs": [
        "NC_000013.11:g.23335032A=",
        "CM000675.2:g.23335032A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 23909171,
          "referenceAllele": "A",
          "start": 23909170
        }
      ],
      "hgvs": [
        "NC_000013.10:g.23909171A=",
        "CM000675.1:g.23909171A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 22807171,
          "referenceAllele": "A",
          "start": 22807170
        }
      ],
      "hgvs": [
        "NC_000013.9:g.22807171A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 103671,
          "referenceAllele": "T",
          "start": 103670
        }
      ],
      "hgvs": [
        "NG_012342.1:g.103671T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002379"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 18753,
          "referenceAllele": "T",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 18752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682775.1:c.2185+18753T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508399.1:n.2185+18753T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9510,
          "referenceAllele": "T",
          "start": 9509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682944.1:c.8871T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507173.1:p.Pro2957="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 18753,
          "referenceAllele": "T",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 18752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683210.1:c.2185+18753T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506739.1:n.2185+18753T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6574,
          "endIntronDirection": "+",
          "endIntronOffset": 2390,
          "referenceAllele": "T",
          "start": 6574,
          "startIntronDirection": "+",
          "startIntronOffset": 2389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683270.1:c.6445+2390T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507624.1:n.6445+2390T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2414,
          "endIntronDirection": "-",
          "endIntronOffset": 5547,
          "referenceAllele": "T",
          "start": 2414,
          "startIntronDirection": "-",
          "startIntronOffset": 5548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683367.1:c.2177-5548T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507780.1:n.2177-5548T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2930,
          "endIntronDirection": "-",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 2930,
          "startIntronDirection": "-",
          "startIntronOffset": 5080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683489.1:c.2292-5080T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508403.1:n.2292-5080T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2957,
          "endIntronDirection": "-",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 2957,
          "startIntronDirection": "-",
          "startIntronOffset": 5080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683680.1:c.2319-5080T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507223.1:n.2319-5080T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2355,
          "endIntronDirection": "-",
          "endIntronOffset": 5547,
          "referenceAllele": "T",
          "start": 2355,
          "startIntronDirection": "-",
          "startIntronOffset": 5548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684163.1:c.2204-5548T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508262.1:n.2204-5548T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "-",
          "endIntronOffset": 5547,
          "referenceAllele": "T",
          "start": 4542,
          "startIntronDirection": "-",
          "startIntronOffset": 5548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684196.1:n.4543-5548T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 13357,
          "referenceAllele": "T",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 13358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684325.1:c.2186-13358T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508121.1:n.2186-13358T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2859,
          "endIntronDirection": "-",
          "endIntronOffset": 5547,
          "referenceAllele": "T",
          "start": 2859,
          "startIntronDirection": "-",
          "startIntronOffset": 5548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684385.1:c.2221-5548T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507855.1:n.2221-5548T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 12387,
          "referenceAllele": "T",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 12388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684497.1:c.2186-12388T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507057.1:n.2186-12388T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9433,
          "referenceAllele": "T",
          "start": 9432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.9:c.8844T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Pro2948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752641",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.8844T="
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.8844T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Pro2948="
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Pro2948="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2812,
          "endIntronDirection": "-",
          "endIntronOffset": 5547,
          "referenceAllele": "T",
          "start": 2812,
          "startIntronDirection": "-",
          "startIntronOffset": 5548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.2:c.2186-5548T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.2:n.2186-5548T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3019,
          "endIntronDirection": "-",
          "endIntronOffset": 5547,
          "referenceAllele": "T",
          "start": 3019,
          "startIntronDirection": "-",
          "startIntronOffset": 5548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.6:c.2432-5548T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406565.2:n.2432-5548T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756513"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9118,
          "referenceAllele": "T",
          "start": 9117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.7:c.8844T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Pro2948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9459,
          "referenceAllele": "T",
          "start": 9458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382298.7:c.8844T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371735.3:p.Pro2948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8928,
          "referenceAllele": "T",
          "start": 8927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000402364.1:c.6594T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385844.1:p.Pro2198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "endIntronDirection": "-",
          "endIntronOffset": 5547,
          "referenceAllele": "T",
          "start": 1057,
          "startIntronDirection": "-",
          "startIntronOffset": 5548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.1:c.1058-5548T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.1:n.1058-5548T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2129,
          "endIntronDirection": "-",
          "endIntronOffset": 5547,
          "referenceAllele": "T",
          "start": 2129,
          "startIntronDirection": "-",
          "startIntronOffset": 5548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.5:c.2130-5548T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826577845",
      "coordinates": [
        {
          "allele": "T",
          "end": 8928,
          "referenceAllele": "T",
          "start": 8927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.1:c.8403T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Pro2801="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829764527",
      "coordinates": [
        {
          "allele": "T",
          "end": 9459,
          "referenceAllele": "T",
          "start": 9458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.5:c.8844T="
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Pro2948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9486,
          "referenceAllele": "T",
          "start": 9485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.1:c.8871T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Pro2957="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8913,
          "referenceAllele": "T",
          "start": 8912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535038.1:c.8895T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533340.1:p.Pro2965="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8983,
          "referenceAllele": "T",
          "start": 8982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.1:c.8862T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Pro2954="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9486,
          "referenceAllele": "T",
          "start": 9485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.2:c.8871T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Pro2957="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9094,
          "referenceAllele": "T",
          "start": 9093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.2:c.8862T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Pro2954="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9067,
          "referenceAllele": "T",
          "start": 9066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_017020539.1:c.8835T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876028.1:p.Pro2945="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9510,
          "referenceAllele": "T",
          "start": 9509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.8871T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Pro2957="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829764527",
      "coordinates": [
        {
          "allele": "T",
          "end": 9433,
          "referenceAllele": "T",
          "start": 9432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.8844T="
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Pro2948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.8844T="
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.8844T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Pro2948="
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Pro2948="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826577845",
      "coordinates": [
        {
          "allele": "T",
          "end": 8893,
          "referenceAllele": "T",
          "start": 8892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.2:c.8403T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Pro2801="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}