{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA314242",
  "communityStandardTitle": [
    "NM_014141.6(CNTNAP2):c.851del (p.Gln284ArgfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202040[alleleid]",
        "alleleId": 202040,
        "preferredName": "NM_014141.6(CNTNAP2):c.851del (p.Gln284fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/205304",
        "RCV": [
          "RCV000187252"
        ],
        "variationId": 205304
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.146818167del?assembly=hg19",
        "id": "chr7:g.146818167del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.147121075del?assembly=hg38",
        "id": "chr7:g.147121075del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796052388",
        "rs": 796052388
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 147121075,
          "referenceAllele": "A",
          "start": 147121074
        }
      ],
      "hgvs": [
        "NC_000007.14:g.147121075del",
        "CM000669.2:g.147121075del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 146818167,
          "referenceAllele": "A",
          "start": 146818166
        }
      ],
      "hgvs": [
        "NC_000007.13:g.146818167del",
        "CM000669.1:g.146818167del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 146449100,
          "referenceAllele": "A",
          "start": 146449099
        }
      ],
      "hgvs": [
        "NC_000007.12:g.146449100del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1009715,
          "referenceAllele": "A",
          "start": 1009714
        }
      ],
      "hgvs": [
        "NG_007092.2:g.1009715del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000472"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1010075,
          "referenceAllele": "A",
          "start": 1010074
        }
      ],
      "hgvs": [
        "NG_007092.3:g.1010075del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673478"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 927,
          "referenceAllele": "A",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000361727.8:c.851del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354778.3:p.Gln284ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749527",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361727.8:c.851del"
          },
          "RefSeq": {
            "hgvs": "NM_014141.6:c.851del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354778.3:p.Gln284ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_054860.1:p.Gln284ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 754,
          "referenceAllele": "A",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000636561.1:n.754del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763207"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 713,
          "referenceAllele": "A",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000636870.1:n.713del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763445"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 780,
          "referenceAllele": "A",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000637150.1:n.780del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763649"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 509,
          "referenceAllele": "A",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000637555.1:n.509del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763943"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 754,
          "referenceAllele": "A",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000637694.1:n.754del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764043"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 334,
          "referenceAllele": "A",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000637825.1:n.334del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764137"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 754,
          "referenceAllele": "A",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000638117.1:n.754del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764351"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1369,
          "referenceAllele": "A",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "ENST00000361727.7:c.851del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354778.3:p.Gln284ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265625"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1367,
          "referenceAllele": "A",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "NM_014141.5:c.851del"
      ],
      "proteinEffect": {
        "hgvs": "NP_054860.1:p.Gln284ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032935"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1521,
          "referenceAllele": "A",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "XM_017011950.2:c.851del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867439.1:p.Gln284ArgfsTer?",
        "hgvsWellDefined": "XP_016867439.1:p.[Gln284Arg;Arg286_Asn289delinsGlyAla;Thr291_Leu292insSer;Asp293_Gly303delinsTrpThrGlyAlaCysSerThrSerValProMet;Phe305_Glu313delinsSerLeuThrThrTrpThrTrpThrMetArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565676"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 927,
          "referenceAllele": "A",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "NM_014141.6:c.851del"
      ],
      "proteinEffect": {
        "hgvs": "NP_054860.1:p.Gln284ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361727.8:c.851del"
          },
          "RefSeq": {
            "hgvs": "NM_014141.6:c.851del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354778.3:p.Gln284ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_054860.1:p.Gln284ArgfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}