{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10264848",
  "communityStandardTitle": [
    "NM_000106.6(CYP2D6):c.841_843del (p.Lys281del)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1684653",
        "active": true,
        "id": "COSM1684653"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1684654",
        "active": true,
        "id": "COSM1684654"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=609121[alleleid]",
        "alleleId": 609121,
        "preferredName": "NM_000106.6(CYP2D6):c.841_843del (p.Lys281del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/617719",
        "RCV": [
          "RCV002259368",
          "RCV002259367"
        ],
        "variationId": 617719
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-42524175-CCTT-C",
        "id": "22-42524175-CCTT-C",
        "variant": "22:42524175 CCTT / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42524176_42524178del?assembly=hg19",
        "id": "chr22:g.42524176_42524178del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42128175_42128177del?assembly=hg38",
        "id": "chr22:g.42128175_42128177del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42128174_42128176del?assembly=hg38",
        "id": "chr22:g.42128174_42128176del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/5030656",
        "rs": 5030656
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42524175-CCTT-C?dataset=gnomad_r2_1",
        "id": "22-42524175-CCTT-C",
        "variant": "22:42524175 CCTT / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42128173-CCTT-C?dataset=gnomad_r3",
        "id": "22-42128173-CCTT-C",
        "variant": "22:42128173 CCTT / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42128173-CCTT-C?dataset=gnomad_r4",
        "id": "22-42128173-CCTT-C",
        "variant": "22:42128173 CCTT / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 42128178,
          "referenceAllele": "TCT",
          "start": 42128175
        }
      ],
      "hgvs": [
        "NC_000022.11:g.42128176_42128178del",
        "CM000684.2:g.42128176_42128178del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 42524180,
          "referenceAllele": "TCT",
          "start": 42524177
        }
      ],
      "hgvs": [
        "NC_000022.10:g.42524178_42524180del",
        "CM000684.1:g.42524178_42524180del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 40854124,
          "referenceAllele": "TCT",
          "start": 40854121
        }
      ],
      "hgvs": [
        "NC_000022.9:g.40854122_40854124del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6818,
          "referenceAllele": "GAA",
          "start": 6815
        }
      ],
      "hgvs": [
        "NG_008376.3:g.6816_6818del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001064"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7637,
          "referenceAllele": "GAA",
          "start": 7634
        }
      ],
      "hgvs": [
        "NG_008376.4:g.7635_7637del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616101"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 690,
          "referenceAllele": "GAA",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360124.10:c.688_690del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353241.6:p.Lys230del",
        "hgvsWellDefined": "ENSP00000353241.6:p.Lys230del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913977"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 862,
          "referenceAllele": "GAA",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000645361.2:c.841_843del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496150.1:p.Lys281del",
        "hgvsWellDefined": "ENSP00000496150.1:p.Lys281del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768312",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645361.2:c.841_843del"
          },
          "RefSeq": {
            "hgvs": "NM_000106.6:c.841_843del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496150.1:p.Lys281del"
          },
          "RefSeq": {
            "hgvs": "NP_000097.3:p.Lys281del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 764,
          "referenceAllele": "GAA",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000359033.4:c.688_690del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351927.4:p.Lys230del",
        "hgvsWellDefined": "ENSP00000351927.4:p.Lys230del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264655"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 510,
          "referenceAllele": "GAA",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360124.9:c.508_510del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353241.5:p.Lys170del",
        "hgvsWellDefined": "ENSP00000353241.5:p.Lys170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265022"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 958,
          "referenceAllele": "GAA",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360608.9:c.841_843del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353820.5:p.Lys281del",
        "hgvsWellDefined": "ENSP00000353820.5:p.Lys281del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265193"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 933,
          "referenceAllele": "GAA",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000389970.7:c.775_777del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374620.4:p.Lys259del",
        "hgvsWellDefined": "ENSP00000374620.4:p.Lys259del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274331"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1567,
          "referenceAllele": "GAA",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000488442.1:n.1565_1567del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913191597",
      "coordinates": [
        {
          "allele": "",
          "end": 933,
          "referenceAllele": "GAA",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_000106.5:c.841_843del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000097.3:p.Lys281del",
        "hgvsWellDefined": "NP_000097.3:p.Lys281del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825340350",
      "coordinates": [
        {
          "allele": "",
          "end": 780,
          "referenceAllele": "GAA",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_001025161.2:c.688_690del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020332.2:p.Lys230del",
        "hgvsWellDefined": "NP_001020332.2:p.Lys230del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008848"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2000,
          "referenceAllele": "GAA",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529966.1:c.841_843del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528268.1:p.Lys281del",
        "hgvsWellDefined": "XP_011528268.1:p.Lys281del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097025"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2192,
          "referenceAllele": "GAA",
          "start": 2189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529967.1:c.841_843del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528269.1:p.Lys281del",
        "hgvsWellDefined": "XP_011528269.1:p.Lys281del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097026"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2000,
          "referenceAllele": "GAA",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529968.1:c.841_843del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528270.1:p.Lys281del",
        "hgvsWellDefined": "XP_011528270.1:p.Lys281del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097027"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1314,
          "referenceAllele": "GAA",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529969.1:c.697_699del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528271.1:p.Lys233del",
        "hgvsWellDefined": "XP_011528271.1:p.Lys233del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097028"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1847,
          "referenceAllele": "GAA",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529970.1:c.688_690del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528272.1:p.Lys230del",
        "hgvsWellDefined": "XP_011528272.1:p.Lys230del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097029"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1314,
          "referenceAllele": "GAA",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529971.1:c.697_699del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528273.1:p.Lys233del",
        "hgvsWellDefined": "XP_011528273.1:p.Lys233del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097030"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2000,
          "referenceAllele": "GAA",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529972.1:c.841_843del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528274.1:p.Lys281del",
        "hgvsWellDefined": "XP_011528274.1:p.Lys281del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913191597",
      "coordinates": [
        {
          "allele": "",
          "end": 862,
          "referenceAllele": "GAA",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_000106.6:c.841_843del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000097.3:p.Lys281del",
        "hgvsWellDefined": "NP_000097.3:p.Lys281del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645361.2:c.841_843del"
          },
          "RefSeq": {
            "hgvs": "NM_000106.6:c.841_843del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496150.1:p.Lys281del"
          },
          "RefSeq": {
            "hgvs": "NP_000097.3:p.Lys281del"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825340350",
      "coordinates": [
        {
          "allele": "",
          "end": 709,
          "referenceAllele": "GAA",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_001025161.3:c.688_690del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020332.2:p.Lys230del",
        "hgvsWellDefined": "NP_001020332.2:p.Lys230del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675668"
    }
  ],
  "type": "nucleotide"
}