{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA211681913",
  "communityStandardTitle": [
    "NM_000769.4(CYP2C19):c.721dup (p.Glu241GlyfsTer3)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72558185",
        "rs": 72558185
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 94781899,
          "referenceAllele": "",
          "start": 94781899
        }
      ],
      "hgvs": [
        "NC_000010.11:g.94781899dup",
        "CM000672.2:g.94781899dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 96541656,
          "referenceAllele": "",
          "start": 96541656
        }
      ],
      "hgvs": [
        "NC_000010.10:g.96541656dup",
        "CM000672.1:g.96541656dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 96531646,
          "referenceAllele": "",
          "start": 96531646
        }
      ],
      "hgvs": [
        "NC_000010.9:g.96531646dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 24194,
          "referenceAllele": "",
          "start": 24194
        }
      ],
      "hgvs": [
        "NG_008384.2:g.24194dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 24219,
          "referenceAllele": "",
          "start": 24219
        }
      ],
      "hgvs": [
        "NG_008384.3:g.24219dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616102"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 746,
          "referenceAllele": "",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "ENST00000371321.9:c.721dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360372.3:p.Glu241GlyfsTer3",
        "hgvsWellDefined": "ENSP00000360372.3:p.Glu241_Ile269delinsGly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750768",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371321.9:c.721dup"
          },
          "RefSeq": {
            "hgvs": "NM_000769.4:c.721dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360372.3:p.Glu241GlyfsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_000760.1:p.Glu241GlyfsTer3"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1774,
          "referenceAllele": "",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "ENST00000645461.1:n.1774dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 803,
          "referenceAllele": "",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "ENST00000371321.7:c.721dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360372.3:p.Glu241GlyfsTer3",
        "hgvsWellDefined": "ENSP00000360372.3:p.Glu241_Ile269delinsGly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268526"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1484,
          "referenceAllele": "",
          "start": 1484
        }
      ],
      "hgvs": [
        "ENST00000464755.1:c.1484dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483243.1:n.1484dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 746,
          "referenceAllele": "",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "NM_000769.2:c.721dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000760.1:p.Glu241GlyfsTer3",
        "hgvsWellDefined": "NP_000760.1:p.Glu241_Ile269delinsGly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006799"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 746,
          "referenceAllele": "",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "NM_000769.4:c.721dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000760.1:p.Glu241GlyfsTer3",
        "hgvsWellDefined": "NP_000760.1:p.Glu241_Ile269delinsGly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371321.9:c.721dup"
          },
          "RefSeq": {
            "hgvs": "NM_000769.4:c.721dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360372.3:p.Glu241GlyfsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_000760.1:p.Glu241GlyfsTer3"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}