{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041630",
  "communityStandardTitle": [
    "NM_014363.6(SACS):c.5744_5745del (p.His1915ArgfsTer19)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358178[alleleid]",
        "alleleId": 358178,
        "preferredName": "NM_014363.6(SACS):c.5744_5745del (p.His1915fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371265",
        "RCV": [
          "RCV000411869",
          "RCV001387964"
        ],
        "variationId": 371265
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23912270_23912271del?assembly=hg19",
        "id": "chr13:g.23912270_23912271del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23338131_23338132del?assembly=hg38",
        "id": "chr13:g.23338131_23338132del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517138",
        "rs": 1057517138
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 23338132,
          "referenceAllele": "AT",
          "start": 23338130
        }
      ],
      "hgvs": [
        "NC_000013.11:g.23338131_23338132del",
        "CM000675.2:g.23338131_23338132del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 23912271,
          "referenceAllele": "AT",
          "start": 23912269
        }
      ],
      "hgvs": [
        "NC_000013.10:g.23912270_23912271del",
        "CM000675.1:g.23912270_23912271del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 22810271,
          "referenceAllele": "AT",
          "start": 22810269
        }
      ],
      "hgvs": [
        "NC_000013.9:g.22810270_22810271del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 100572,
          "referenceAllele": "AT",
          "start": 100570
        }
      ],
      "hgvs": [
        "NG_012342.1:g.100571_100572del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002379"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 15654,
          "referenceAllele": "AT",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 15652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682775.1:c.2185+15653_2185+15654del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508399.1:n.2185+15653_2185+15654del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827764"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6411,
          "referenceAllele": "AT",
          "start": 6409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682944.1:c.5771_5772del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507173.1:p.His1924ArgfsTer19"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827932"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 15654,
          "referenceAllele": "AT",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 15652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683210.1:c.2185+15653_2185+15654del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506739.1:n.2185+15653_2185+15654del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828192"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5865,
          "referenceAllele": "AT",
          "start": 5863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683270.1:c.5735_5736del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507624.1:p.His1912ArgfsTer19",
        "hgvsWellDefined": "ENSP00000507624.1:p.[His1912_Ala1917delinsArg;Leu1919_Leu1922delinsCysGlu;Val1924del;Arg1926_Asp1927del;Ala1929del;Ser1931_Gly1932delinsGlyThr;Leu1934_Tyr1937delinsCysLeu;Tyr1939_Val1942delinsGlyProGlyHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828251"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2414,
          "endIntronDirection": "-",
          "endIntronOffset": 8646,
          "referenceAllele": "AT",
          "start": 2414,
          "startIntronDirection": "-",
          "startIntronOffset": 8648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683367.1:c.2177-8648_2177-8647del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507780.1:n.2177-8648_2177-8647del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828347"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2930,
          "endIntronDirection": "+",
          "endIntronOffset": 3454,
          "referenceAllele": "AT",
          "start": 2930,
          "startIntronDirection": "+",
          "startIntronOffset": 3452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683489.1:c.2291+3453_2291+3454del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508403.1:n.2291+3453_2291+3454del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828463"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2957,
          "endIntronDirection": "+",
          "endIntronOffset": 3454,
          "referenceAllele": "AT",
          "start": 2957,
          "startIntronDirection": "+",
          "startIntronOffset": 3452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683680.1:c.2318+3453_2318+3454del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507223.1:n.2318+3453_2318+3454del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828651"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2355,
          "endIntronDirection": "-",
          "endIntronOffset": 8646,
          "referenceAllele": "AT",
          "start": 2355,
          "startIntronDirection": "-",
          "startIntronOffset": 8648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684163.1:c.2204-8648_2204-8647del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508262.1:n.2204-8648_2204-8647del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829121"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4542,
          "endIntronDirection": "-",
          "endIntronOffset": 8646,
          "referenceAllele": "AT",
          "start": 4542,
          "startIntronDirection": "-",
          "startIntronOffset": 8648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684196.1:n.4543-8648_4543-8647del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829154"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 15654,
          "referenceAllele": "AT",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 15652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684325.1:c.2185+15653_2185+15654del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508121.1:n.2185+15653_2185+15654del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829280"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2859,
          "endIntronDirection": "-",
          "endIntronOffset": 8646,
          "referenceAllele": "AT",
          "start": 2859,
          "startIntronDirection": "-",
          "startIntronOffset": 8648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684385.1:c.2221-8648_2221-8647del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507855.1:n.2221-8648_2221-8647del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829340"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 15486,
          "referenceAllele": "AT",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 15488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684497.1:c.2186-15488_2186-15487del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507057.1:n.2186-15488_2186-15487del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829451"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6334,
          "referenceAllele": "AT",
          "start": 6332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.9:c.5744_5745del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.His1915ArgfsTer19"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752641",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.5744_5745del"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.5744_5745del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.His1915ArgfsTer19"
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.His1915ArgfsTer19"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2812,
          "endIntronDirection": "-",
          "endIntronOffset": 8646,
          "referenceAllele": "AT",
          "start": 2812,
          "startIntronDirection": "-",
          "startIntronOffset": 8648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.2:c.2186-8648_2186-8647del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.2:n.2186-8648_2186-8647del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754964"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3019,
          "endIntronDirection": "+",
          "endIntronOffset": 3314,
          "referenceAllele": "AT",
          "start": 3019,
          "startIntronDirection": "+",
          "startIntronOffset": 3312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.6:c.2431+3313_2431+3314del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406565.2:n.2431+3313_2431+3314del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756513"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6019,
          "referenceAllele": "AT",
          "start": 6017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.7:c.5744_5745del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.His1915ArgfsTer19"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273693"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6360,
          "referenceAllele": "AT",
          "start": 6358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382298.7:c.5744_5745del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371735.3:p.His1915ArgfsTer19"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273698"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5829,
          "referenceAllele": "AT",
          "start": 5827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000402364.1:c.3494_3495del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385844.1:p.His1165ArgfsTer19"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279490"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1057,
          "endIntronDirection": "-",
          "endIntronOffset": 8646,
          "referenceAllele": "AT",
          "start": 1057,
          "startIntronDirection": "-",
          "startIntronOffset": 8648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.1:c.1058-8648_1058-8647del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.1:n.1058-8648_1058-8647del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287621"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2129,
          "endIntronDirection": "+",
          "endIntronOffset": 3314,
          "referenceAllele": "AT",
          "start": 2129,
          "startIntronDirection": "+",
          "startIntronOffset": 3312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.5:c.2129+3313_2129+3314del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303060"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5829,
          "referenceAllele": "AT",
          "start": 5827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.1:c.5303_5304del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.His1768ArgfsTer19"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021054"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6360,
          "referenceAllele": "AT",
          "start": 6358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.5:c.5744_5745del"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.His1915ArgfsTer19"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033115"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6387,
          "referenceAllele": "AT",
          "start": 6385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.1:c.5771_5772del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.His1924ArgfsTer19"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5814,
          "referenceAllele": "AT",
          "start": 5812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535038.1:c.5795_5796del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533340.1:p.His1932ArgfsTer19"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102048"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5884,
          "referenceAllele": "AT",
          "start": 5882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.1:c.5762_5763del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.His1921ArgfsTer19"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102049"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6387,
          "referenceAllele": "AT",
          "start": 6385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.2:c.5771_5772del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.His1924ArgfsTer19"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536218"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5995,
          "referenceAllele": "AT",
          "start": 5993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.2:c.5762_5763del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.His1921ArgfsTer19"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551886"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5968,
          "referenceAllele": "AT",
          "start": 5966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_017020539.1:c.5735_5736del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876028.1:p.His1912ArgfsTer19"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6411,
          "referenceAllele": "AT",
          "start": 6409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.5771_5772del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.His1924ArgfsTer19"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6334,
          "referenceAllele": "AT",
          "start": 6332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.5744_5745del"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.His1915ArgfsTer19"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.5744_5745del"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.5744_5745del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.His1915ArgfsTer19"
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.His1915ArgfsTer19"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5794,
          "referenceAllele": "AT",
          "start": 5792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.2:c.5303_5304del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.His1768ArgfsTer19"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}