{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042660",
  "communityStandardTitle": [
    "NC_000009.12:g.127612440_127612441del"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359763[alleleid]",
        "alleleId": 359763,
        "preferredName": "NM_001374309.2(STXBP1):c.-6+388GA[2]"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373290",
        "RCV": [
          "RCV000413061"
        ],
        "variationId": 373290
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130374719_130374720del?assembly=hg19",
        "id": "chr9:g.130374719_130374720del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.127612440_127612441del?assembly=hg38",
        "id": "chr9:g.127612440_127612441del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518331",
        "rs": 1057518331
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 127612441,
          "referenceAllele": "AG",
          "start": 127612439
        }
      ],
      "hgvs": [
        "NC_000009.12:g.127612440_127612441del",
        "CM000671.2:g.127612440_127612441del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 130374720,
          "referenceAllele": "AG",
          "start": 130374718
        }
      ],
      "hgvs": [
        "NC_000009.11:g.130374719_130374720del",
        "CM000671.1:g.130374719_130374720del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 129414541,
          "referenceAllele": "AG",
          "start": 129414539
        }
      ],
      "hgvs": [
        "NC_000009.10:g.129414540_129414541del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5235,
          "referenceAllele": "AG",
          "start": 5233
        }
      ],
      "hgvs": [
        "NG_016623.1:g.5234_5235del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003236"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 142,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000704680.1:c.-101_-101+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS912400"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 37,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000704681.1:c.37_37+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS912401"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 164,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000373299.5:c.37_37+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS751202"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 164,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000373302.8:c.37_37+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS751203"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 80,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000476182.3:c.37_37+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757177"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 214,
          "endIntronDirection": "+",
          "endIntronOffset": 394,
          "referenceAllele": "AG",
          "start": 214,
          "startIntronDirection": "+",
          "startIntronOffset": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000626539.3:c.-6+393_-6+394del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487211.2:n.-6+393_-6+394del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762476"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 219,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000635950.2:c.37_37+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762760"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 243,
          "endIntronDirection": "+",
          "endIntronOffset": 394,
          "referenceAllele": "AG",
          "start": 243,
          "startIntronDirection": "+",
          "startIntronOffset": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000636509.2:c.-6+393_-6+394del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490810.1:n.-6+393_-6+394del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763169"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 219,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000636962.2:c.37_37+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763509"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 176,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637060.2:c.37_37+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763580"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 176,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637173.2:c.-196_-196+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763665"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 193,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637464.2:c.37_37+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763879"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 165,
          "endIntronDirection": "+",
          "endIntronOffset": 32907,
          "referenceAllele": "AG",
          "start": 165,
          "startIntronDirection": "+",
          "startIntronOffset": 32905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637521.2:c.-6+32906_-6+32907del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489791.1:n.-6+32906_-6+32907del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763917"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 219,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637953.1:c.37_37+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764235"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 81,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000650920.1:c.-196_-196+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771384"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 158,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000373299.4:c.37_37+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS269616"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 234,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000373302.7:c.37_37+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS269617"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 30,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000476182.2:n.30_30+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317302"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 97,
          "endIntronDirection": "+",
          "endIntronOffset": 585,
          "referenceAllele": "AG",
          "start": 97,
          "startIntronDirection": "+",
          "startIntronOffset": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000625363.2:c.-6+584_-6+585del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486944.1:n.-6+584_-6+585del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406573"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 144,
          "endIntronDirection": "+",
          "endIntronOffset": 394,
          "referenceAllele": "AG",
          "start": 144,
          "startIntronDirection": "+",
          "startIntronOffset": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000626539.2:c.-6+393_-6+394del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487211.1:n.-6+393_-6+394del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406753"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 164,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000627871.2:c.-73_-73+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406967"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 164,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000630492.2:c.-101_-101+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407374"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 234,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001032221.3:c.37_37+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS009051"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 234,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_003165.3:c.37_37+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS028433"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 164,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001032221.6:c.37_37+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS675754"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 164,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374306.2:c.37_37+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS693213"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 164,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374307.2:c.-101_-101+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS693214"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 164,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374308.2:c.-196_-196+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS693215"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 136,
          "endIntronDirection": "+",
          "endIntronOffset": 394,
          "referenceAllele": "AG",
          "start": 136,
          "startIntronDirection": "+",
          "startIntronOffset": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374309.2:c.-6+393_-6+394del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361238.1:n.-6+393_-6+394del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693216"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 164,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374310.2:c.-196_-196+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS693217"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 164,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374311.2:c.-101_-101+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS693218"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 164,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374312.2:c.-108_-108+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS693219"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 164,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374313.2:c.37_37+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS693220"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 164,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374314.1:c.37_37+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS693221"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 164,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374315.2:c.37_37+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS693222"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 164,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "AG",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_003165.6:c.37_37+1del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS695748"
    }
  ],
  "type": "nucleotide"
}