{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA126953",
  "communityStandardTitle": [
    "NM_000106.6(CYP2D6):c.454del (p.Trp152GlyfsTer2)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31930[alleleid]",
        "alleleId": 31930,
        "preferredName": "CYP2D6*6"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16891",
        "RCV": [
          "RCV000018387",
          "RCV000734613",
          "RCV001030443",
          "RCV001093716"
        ],
        "variationId": 16891
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-42525085-CA-C",
        "id": "22-42525085-CA-C",
        "variant": "22:42525085 CA / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42525086del?assembly=hg19",
        "id": "chr22:g.42525086del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42129084del?assembly=hg38",
        "id": "chr22:g.42129084del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/5030655",
        "rs": 5030655
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42525085-CA-C?dataset=gnomad_r2_1",
        "id": "22-42525085-CA-C",
        "variant": "22:42525085 CA / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42129083-CA-C?dataset=gnomad_r3",
        "id": "22-42129083-CA-C",
        "variant": "22:42129083 CA / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42129083-CA-C?dataset=gnomad_r4",
        "id": "22-42129083-CA-C",
        "variant": "22:42129083 CA / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 42129084,
          "referenceAllele": "A",
          "start": 42129083
        }
      ],
      "hgvs": [
        "NC_000022.11:g.42129084del",
        "CM000684.2:g.42129084del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 42525086,
          "referenceAllele": "A",
          "start": 42525085
        }
      ],
      "hgvs": [
        "NC_000022.10:g.42525086del",
        "CM000684.1:g.42525086del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "",
          "end": 40855030,
          "referenceAllele": "A",
          "start": 40855029
        }
      ],
      "hgvs": [
        "NC_000022.9:g.40855030del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5908,
          "referenceAllele": "T",
          "start": 5907
        }
      ],
      "hgvs": [
        "NG_008376.3:g.5908del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001064"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6727,
          "referenceAllele": "T",
          "start": 6726
        }
      ],
      "hgvs": [
        "NG_008376.4:g.6727del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616101"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 352,
          "endIntronDirection": "-",
          "endIntronOffset": 139,
          "referenceAllele": "T",
          "start": 352,
          "startIntronDirection": "-",
          "startIntronOffset": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360124.10:c.353-140del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353241.6:n.353-140del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913977"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 473,
          "referenceAllele": "T",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000645361.2:c.454del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496150.1:p.Trp152GlyfsTer2",
        "hgvsWellDefined": "ENSP00000496150.1:p.[Trp152_Ser168del;Arg170_Ala181del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768312",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645361.2:c.454del"
          },
          "RefSeq": {
            "hgvs": "NM_000106.6:c.454del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496150.1:p.Trp152GlyfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_000097.3:p.Trp152GlyfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 426,
          "endIntronDirection": "-",
          "endIntronOffset": 139,
          "referenceAllele": "T",
          "start": 426,
          "startIntronDirection": "-",
          "startIntronOffset": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000359033.4:c.353-140del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351927.4:n.353-140del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264655"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 172,
          "endIntronDirection": "-",
          "endIntronOffset": 139,
          "referenceAllele": "T",
          "start": 172,
          "startIntronDirection": "-",
          "startIntronOffset": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360124.9:c.173-140del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353241.5:n.173-140del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265022"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 569,
          "referenceAllele": "T",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360608.9:c.454del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353820.5:p.Trp152GlyfsTer2",
        "hgvsWellDefined": "ENSP00000353820.5:p.[Trp152_Ser168del;Arg170_Ala181del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265193"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 544,
          "referenceAllele": "T",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000389970.7:c.388del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374620.4:p.Trp130GlyfsTer2",
        "hgvsWellDefined": "ENSP00000374620.4:p.[Trp130_Ser146del;Arg148_Ala159del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274331"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1178,
          "referenceAllele": "T",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000488442.1:n.1178del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326746"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 544,
          "referenceAllele": "T",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_000106.5:c.454del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000097.3:p.Trp152GlyfsTer2",
        "hgvsWellDefined": "NP_000097.3:p.[Trp152_Ser168del;Arg170_Ala181del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006169"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 442,
          "endIntronDirection": "-",
          "endIntronOffset": 139,
          "referenceAllele": "T",
          "start": 442,
          "startIntronDirection": "-",
          "startIntronOffset": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_001025161.2:c.353-140del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020332.2:n.353-140del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008848"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1611,
          "referenceAllele": "T",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529966.1:c.454del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528268.1:p.Trp152GlyfsTer2",
        "hgvsWellDefined": "XP_011528268.1:p.[Trp152_Ser168del;Arg170_Ala181del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097025"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1803,
          "referenceAllele": "T",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529967.1:c.454del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528269.1:p.Trp152GlyfsTer2",
        "hgvsWellDefined": "XP_011528269.1:p.[Trp152_Ser168del;Arg170_Ala181del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097026"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1611,
          "referenceAllele": "T",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529968.1:c.454del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528270.1:p.Trp152GlyfsTer2",
        "hgvsWellDefined": "XP_011528270.1:p.[Trp152_Ser168del;Arg170_Ala181del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097027"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 926,
          "referenceAllele": "T",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529969.1:c.311del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528271.1:p.Val104GlyfsTer?",
        "hgvsWellDefined": "XP_011528271.1:p.[Val104del;Asp106_Pro112delinsValThrGluGluAlaAlaCys;Arg115_Arg122delinsAlaAlaPheAlaAsnHisSerAspAla;Arg125Ala;Asn127_Asp131delinsThrValSerTrpThr;Ala133Pro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097028"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1509,
          "endIntronDirection": "-",
          "endIntronOffset": 139,
          "referenceAllele": "T",
          "start": 1509,
          "startIntronDirection": "-",
          "startIntronOffset": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529970.1:c.353-140del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528272.1:n.353-140del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097029"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 926,
          "referenceAllele": "T",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529971.1:c.311del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528273.1:p.Val104GlyfsTer?",
        "hgvsWellDefined": "XP_011528273.1:p.[Val104del;Asp106_Pro112delinsValThrGluGluAlaAlaCys;Arg115_Arg122delinsAlaAlaPheAlaAsnHisSerAspAla;Arg125Ala;Asn127_Asp131delinsThrValSerTrpThr;Ala133Pro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097030"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1611,
          "referenceAllele": "T",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529972.1:c.454del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528274.1:p.Trp152GlyfsTer2",
        "hgvsWellDefined": "XP_011528274.1:p.[Trp152_Ser168del;Arg170_Ala181del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097031"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 473,
          "referenceAllele": "T",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_000106.6:c.454del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000097.3:p.Trp152GlyfsTer2",
        "hgvsWellDefined": "NP_000097.3:p.[Trp152_Ser168del;Arg170_Ala181del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645361.2:c.454del"
          },
          "RefSeq": {
            "hgvs": "NM_000106.6:c.454del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496150.1:p.Trp152GlyfsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_000097.3:p.Trp152GlyfsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 371,
          "endIntronDirection": "-",
          "endIntronOffset": 139,
          "referenceAllele": "T",
          "start": 371,
          "startIntronDirection": "-",
          "startIntronOffset": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_001025161.3:c.353-140del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020332.2:n.353-140del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675668"
    }
  ],
  "type": "nucleotide"
}