{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041844",
  "communityStandardTitle": [
    "NM_000151.4(G6PC1):c.499dup (p.Cys167LeufsTer?)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1630207",
        "active": true,
        "id": "COSM1630207"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358442[alleleid]",
        "alleleId": 358442,
        "preferredName": "NM_000151.4(G6PC1):c.499dup (p.Cys167fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370616",
        "RCV": [
          "RCV000412063"
        ],
        "variationId": 370616
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41061372dupT?assembly=hg19",
        "id": "chr17:g.41061372dupT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41061372_41061373insT?assembly=hg19",
        "id": "chr17:g.41061372_41061373insT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42909355dupT?assembly=hg38",
        "id": "chr17:g.42909355dupT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516630",
        "rs": 1057516630
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42909354-C-CT?dataset=gnomad_r4",
        "id": "17-42909354-C-CT",
        "variant": "17:42909354 C / CT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42909355,
          "referenceAllele": "",
          "start": 42909355
        }
      ],
      "hgvs": [
        "NC_000017.11:g.42909355dup",
        "CM000679.2:g.42909355dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 41061372,
          "referenceAllele": "",
          "start": 41061372
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41061372dup",
        "CM000679.1:g.41061372dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 38314898,
          "referenceAllele": "",
          "start": 38314898
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38314898dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13558,
          "referenceAllele": "",
          "start": 13558
        }
      ],
      "hgvs": [
        "NG_011808.1:g.13558dup",
        "LRG_147:g.13558dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001991"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 577,
          "referenceAllele": "",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000253801.7:c.499dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253801.1:p.Cys167LeufsTer?",
        "hgvsWellDefined": "ENSP00000253801.1:p.[Cys167del;Arg170_Tyr172delinsValThrAsn;Ala174_His176delinsProCysCysSer;Pro178_Thr194delinsSerSerSerSerCysCysTrpSerProValArgHisCysCysCysArgAsn;Ser196Gln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253801.7:c.499dup"
          },
          "RefSeq": {
            "hgvs": "NM_000151.4:c.499dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253801.1:p.Cys167LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000142.2:p.Cys167LeufsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 578,
          "referenceAllele": "",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000253801.6:c.499dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253801.1:p.Cys167LeufsTer?",
        "hgvsWellDefined": "ENSP00000253801.1:p.[Cys167del;Arg170_Tyr172delinsValThrAsn;Ala174_His176delinsProCysCysSer;Pro178_Thr194delinsSerSerSerSerCysCysTrpSerProValArgHisCysCysCysArgAsn;Ser196Gln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "endIntronDirection": "-",
          "endIntronOffset": 1559,
          "referenceAllele": "",
          "start": 523,
          "startIntronDirection": "-",
          "startIntronOffset": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000585489.1:c.447-1560dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466202.1:n.447-1560dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "ENST00000592383.5:c.422dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465958.1:p.Ser142ValfsTer?",
        "hgvsWellDefined": "ENSP00000465958.1:p.[Ser142_Ser150delinsValCysHisGluSerThrLeuLeuLeuIle;Ser152_Trp158delinsLeuIleLysLeuLeuLeuGlu;Pro160_Gln170delinsCysGlnAlaLeuLeuLeuGlnLysLeuSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "referenceAllele": "",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.3:c.499dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000142.2:p.Cys167LeufsTer?",
        "hgvsWellDefined": "NP_000142.2:p.[Cys167del;Arg170_Tyr172delinsValThrAsn;Ala174_His176delinsProCysCysSer;Pro178_Thr194delinsSerSerSerSerCysCysTrpSerProValArgHisCysCysCysArgAsn;Ser196Gln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.1:c.422dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:p.Ser142ValfsTer?",
        "hgvsWellDefined": "NP_001257326.1:p.[Ser142_Ser150delinsValCysHisGluSerThrLeuLeuLeuIle;Ser152_Trp158delinsLeuIleLysLeuLeuLeuGlu;Pro160_Gln170delinsCysGlnAlaLeuLeuLeuGlnLysLeuSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 577,
          "referenceAllele": "",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_000151.4:c.499dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000142.2:p.Cys167LeufsTer?",
        "hgvsWellDefined": "NP_000142.2:p.[Cys167del;Arg170_Tyr172delinsValThrAsn;Ala174_His176delinsProCysCysSer;Pro178_Thr194delinsSerSerSerSerCysCysTrpSerProValArgHisCysCysCysArgAsn;Ser196Gln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253801.7:c.499dup"
          },
          "RefSeq": {
            "hgvs": "NM_000151.4:c.499dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253801.1:p.Cys167LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000142.2:p.Cys167LeufsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 500,
          "referenceAllele": "",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004056",
      "geneNCBI_id": 2538,
      "geneSymbol": "G6PC1",
      "hgvs": [
        "NM_001270397.2:c.422dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257326.1:p.Ser142ValfsTer?",
        "hgvsWellDefined": "NP_001257326.1:p.[Ser142_Ser150delinsValCysHisGluSerThrLeuLeuLeuIle;Ser152_Trp158delinsLeuIleLysLeuLeuLeuGlu;Pro160_Gln170delinsCysGlnAlaLeuLeuLeuGlnLysLeuSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681003"
    }
  ],
  "type": "nucleotide"
}