{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2692387",
  "communityStandardTitle": [
    "NM_000055.4(BCHE):c.1027dup (p.Thr343AsnfsTer8)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1420407",
        "active": true,
        "id": "COSM1420407"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357311[alleleid]",
        "alleleId": 357311,
        "preferredName": "NM_000055.4(BCHE):c.1027dup (p.Thr343fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370302",
        "RCV": [
          "RCV000411348"
        ],
        "variationId": 370302
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-165547794-G-GT",
        "id": "3-165547794-G-GT",
        "variant": "3:165547794 G / GT"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.165547795dupT?assembly=hg19",
        "id": "chr3:g.165547795dupT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.165547794_165547795insT?assembly=hg19",
        "id": "chr3:g.165547794_165547795insT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.165830007dupT?assembly=hg38",
        "id": "chr3:g.165830007dupT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.165830006_165830007insT?assembly=hg38",
        "id": "chr3:g.165830006_165830007insT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/754214624",
        "rs": 754214624
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-165547794-G-GT?dataset=gnomad_r2_1",
        "id": "3-165547794-G-GT",
        "variant": "3:165547794 G / GT"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-165830006-G-GT?dataset=gnomad_r3",
        "id": "3-165830006-G-GT",
        "variant": "3:165830006 G / GT"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-165830006-G-GT?dataset=gnomad_r4",
        "id": "3-165830006-G-GT",
        "variant": "3:165830006 G / GT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 165830013,
          "referenceAllele": "",
          "start": 165830013
        }
      ],
      "hgvs": [
        "NC_000003.12:g.165830013dup",
        "CM000665.2:g.165830013dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 165547801,
          "referenceAllele": "",
          "start": 165547801
        }
      ],
      "hgvs": [
        "NC_000003.11:g.165547801dup",
        "CM000665.1:g.165547801dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 167030495,
          "referenceAllele": "",
          "start": 167030495
        }
      ],
      "hgvs": [
        "NC_000003.10:g.167030495dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12459,
          "referenceAllele": "",
          "start": 12459
        }
      ],
      "hgvs": [
        "NG_009031.1:g.12459dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001391"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1145,
          "referenceAllele": "",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000264381.8:c.1027dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264381.3:p.Thr343AsnfsTer8",
        "hgvsWellDefined": "ENSP00000264381.3:p.[Thr343_Val349del;Lys351Pro;Glu353_Ala356del;Leu358_Tyr360del;Ala362_Pro363del;Phe365_Ile372delinsCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742667",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264381.8:c.1027dup"
          },
          "RefSeq": {
            "hgvs": "NM_000055.4:c.1027dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264381.3:p.Thr343AsnfsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_000046.1:p.Thr343AsnfsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1194,
          "referenceAllele": "",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000264381.7:c.1027dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264381.3:p.Thr343AsnfsTer8",
        "hgvsWellDefined": "ENSP00000264381.3:p.[Thr343_Val349del;Lys351Pro;Glu353_Ala356del;Leu358_Tyr360del;Ala362_Pro363del;Phe365_Ile372delinsCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 107,
          "endIntronDirection": "+",
          "endIntronOffset": 7307,
          "referenceAllele": "",
          "start": 107,
          "startIntronDirection": "+",
          "startIntronOffset": 7307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000479451.5:c.107+7307dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418325.1:n.107+7307dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1184,
          "referenceAllele": "",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000482958.1:c.1027dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419804.1:p.Thr343AsnfsTer8",
        "hgvsWellDefined": "ENSP00000419804.1:p.[Thr343_Val349del;Lys351Pro;Glu353_Ala356del;Leu358_Tyr360del;Ala362_Pro363del;Phe365_Ile372delinsCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 107,
          "endIntronDirection": "+",
          "endIntronOffset": 7307,
          "referenceAllele": "",
          "start": 107,
          "startIntronDirection": "+",
          "startIntronOffset": 7307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000488954.1:c.107+7307dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418504.1:n.107+7307dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1184,
          "referenceAllele": "",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000497011.5:c.1027dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419505.1:p.Thr343AsnfsTer8",
        "hgvsWellDefined": "ENSP00000419505.1:p.[Thr343_Val349del;Lys351Pro;Glu353_Ala356del;Leu358_Tyr360del;Ala362_Pro363del;Phe365_Ile372delinsCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1187,
          "referenceAllele": "",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NM_000055.2:c.1027dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000046.1:p.Thr343AsnfsTer8",
        "hgvsWellDefined": "NP_000046.1:p.[Thr343_Val349del;Lys351Pro;Glu353_Ala356del;Leu358_Tyr360del;Ala362_Pro363del;Phe365_Ile372delinsCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1194,
          "referenceAllele": "",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "XM_005247685.1:c.1150dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247742.1:p.Thr384AsnfsTer8",
        "hgvsWellDefined": "XP_005247742.1:p.[Thr384_Val390del;Lys392Pro;Glu394_Ala397del;Leu399_Tyr401del;Ala403_Pro404del;Phe406_Ile413delinsCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1194,
          "referenceAllele": "",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NM_000055.3:c.1027dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000046.1:p.Thr343AsnfsTer8",
        "hgvsWellDefined": "NP_000046.1:p.[Thr343_Val349del;Lys351Pro;Glu353_Ala356del;Leu358_Tyr360del;Ala362_Pro363del;Phe365_Ile372delinsCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 159,
          "endIntronDirection": "+",
          "endIntronOffset": 7307,
          "referenceAllele": "",
          "start": 159,
          "startIntronDirection": "+",
          "startIntronOffset": 7307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NR_137635.1:n.159+7307dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1194,
          "referenceAllele": "",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NR_137636.1:n.1194dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529097"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1145,
          "referenceAllele": "",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NM_000055.4:c.1027dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000046.1:p.Thr343AsnfsTer8",
        "hgvsWellDefined": "NP_000046.1:p.[Thr343_Val349del;Lys351Pro;Glu353_Ala356del;Leu358_Tyr360del;Ala362_Pro363del;Phe365_Ile372delinsCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264381.8:c.1027dup"
          },
          "RefSeq": {
            "hgvs": "NM_000055.4:c.1027dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264381.3:p.Thr343AsnfsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_000046.1:p.Thr343AsnfsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 110,
          "endIntronDirection": "+",
          "endIntronOffset": 7307,
          "referenceAllele": "",
          "start": 110,
          "startIntronDirection": "+",
          "startIntronOffset": 7307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NR_137635.2:n.110+7307dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1145,
          "referenceAllele": "",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NR_137636.2:n.1145dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703981"
    }
  ],
  "type": "nucleotide"
}