{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA72699803",
  "communityStandardTitle": [
    "NM_006371.5(CRTAP):c.444C>G (p.Tyr148Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=452061[alleleid]",
        "alleleId": 452061,
        "preferredName": "NM_006371.5(CRTAP):c.444C>G (p.Tyr148Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/465810",
        "RCV": [
          "RCV000534680"
        ],
        "variationId": 465810
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.33156013C>G?assembly=hg19",
        "id": "chr3:g.33156013C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.33114521C>G?assembly=hg38",
        "id": "chr3:g.33114521C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/972668240",
        "rs": 972668240
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-33156013-C-G?dataset=gnomad_r2_1",
        "id": "3-33156013-C-G",
        "variant": "3:33156013 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-33114521-C-G?dataset=gnomad_r4",
        "id": "3-33114521-C-G",
        "variant": "3:33114521 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 33114521,
          "referenceAllele": "C",
          "start": 33114520
        }
      ],
      "hgvs": [
        "NC_000003.12:g.33114521C>G",
        "CM000665.2:g.33114521C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 33156013,
          "referenceAllele": "C",
          "start": 33156012
        }
      ],
      "hgvs": [
        "NC_000003.11:g.33156013C>G",
        "CM000665.1:g.33156013C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 33131017,
          "referenceAllele": "C",
          "start": 33131016
        }
      ],
      "hgvs": [
        "NC_000003.10:g.33131017C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
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          "end": 5564,
          "referenceAllele": "C",
          "start": 5563
        }
      ],
      "hgvs": [
        "NG_008122.1:g.5564C>G",
        "LRG_4:g.5564C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000867"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 508,
          "referenceAllele": "C",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002379",
      "geneNCBI_id": 10491,
      "geneSymbol": "CRTAP",
      "hgvs": [
        "ENST00000320954.11:c.444C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323696.5:p.Tyr148Ter",
        "hgvsWellDefined": "ENSP00000323696.5:p.Tyr148_Ser401delinsLysPheLeuGlnPheAlaTyrPheLysAlaAsnAsnLeuProLysAlaIleAlaAlaAlaHisThrPheLeuLeuLysHisProAspAspGluMetMetLysArgAsnMetAlaTyrTyrLysSerLeuProGlyAlaGluAspTyrIleLysAspLeuGluThrLysSerTyrGluSerLeuPheIleArgAlaValArgAlaTyrAsnGlyGluAsnTrpArgThrSerIleThrAspMetGluLeuAlaLeuProAspPhePheLysAlaPheTyrGluCysLeuAlaAlaCysGluGlySerArgGluIleLysAspPheLysAspPheTyrLeuSerIleAlaAspHisTyrValGluValLeuGluCysLysIleGlnCysGluGluAsnLeuThrProValIleGlyGlyTyrProValGluLysPheValAlaThrMetTyrHisTyrLeuGlnPheAlaTyrTyrLysLeuAsnAspLeuLysAsnAlaAlaProCysAlaValSerTyrLeuLeuPheAspGlnAsnAspLysValMetGlnGlnAsnLeuValTyrTyrGlnTyrHisArgAspThrTrpGlyLeuSerAspGluHisPheGlnProArgProGluAlaValGlnPhePheAsnValThrThrLeuGlnLysGluLeuTyrAspPheAlaLysGluAsnIleMetAspAspAspGluGlyGluValValGluTyrValAspAspLeuLeuGluLeuGluGluThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746389",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000320954.11:c.444C>G"
          },
          "RefSeq": {
            "hgvs": "NM_006371.5:c.444C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323696.5:p.Tyr148Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006362.1:p.Tyr148Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002379",
      "geneNCBI_id": 10491,
      "geneSymbol": "CRTAP",
      "hgvs": [
        "ENST00000320954.10:c.444C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323696.5:p.Tyr148Ter",
        "hgvsWellDefined": "ENSP00000323696.5:p.Tyr148_Ser401delinsLysPheLeuGlnPheAlaTyrPheLysAlaAsnAsnLeuProLysAlaIleAlaAlaAlaHisThrPheLeuLeuLysHisProAspAspGluMetMetLysArgAsnMetAlaTyrTyrLysSerLeuProGlyAlaGluAspTyrIleLysAspLeuGluThrLysSerTyrGluSerLeuPheIleArgAlaValArgAlaTyrAsnGlyGluAsnTrpArgThrSerIleThrAspMetGluLeuAlaLeuProAspPhePheLysAlaPheTyrGluCysLeuAlaAlaCysGluGlySerArgGluIleLysAspPheLysAspPheTyrLeuSerIleAlaAspHisTyrValGluValLeuGluCysLysIleGlnCysGluGluAsnLeuThrProValIleGlyGlyTyrProValGluLysPheValAlaThrMetTyrHisTyrLeuGlnPheAlaTyrTyrLysLeuAsnAspLeuLysAsnAlaAlaProCysAlaValSerTyrLeuLeuPheAspGlnAsnAspLysValMetGlnGlnAsnLeuValTyrTyrGlnTyrHisArgAspThrTrpGlyLeuSerAspGluHisPheGlnProArgProGluAlaValGlnPhePheAsnValThrThrLeuGlnLysGluLeuTyrAspPheAlaLysGluAsnIleMetAspAspAspGluGlyGluValValGluTyrValAspAspLeuLeuGluLeuGluGluThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 468,
          "referenceAllele": "C",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002379",
      "geneNCBI_id": 10491,
      "geneSymbol": "CRTAP",
      "hgvs": [
        "ENST00000449224.1:c.444C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409997.1:p.Tyr148Ter",
        "hgvsWellDefined": "ENSP00000409997.1:p.Tyr148_Ser358delinsLysPheLeuGlnPheAlaTyrPheLysAlaAsnAsnLeuProLysAlaIleAlaAlaAlaHisThrPheLeuLeuLysHisProAspAspGluMetMetLysArgAsnMetAlaTyrTyrLysSerLeuProGlyAlaGluAspTyrIleLysAspLeuGluThrLysSerTyrGluSerLeuPheIleArgAlaValArgAlaTyrAsnGlyGluAsnTrpArgThrSerIleThrAspMetGluLeuAlaLeuProAspPhePheLysAlaPheTyrGluCysLeuAlaAlaCysGluGlySerArgGluIleLysAspPheLysAspPheTyrLeuSerIleAlaValAsnAspLeuLysAsnAlaAlaProCysAlaValSerTyrLeuLeuPheAspGlnAsnAspLysValMetGlnGlnAsnLeuValTyrTyrGlnTyrHisArgAspThrTrpGlyLeuSerAspGluHisPheGlnProArgProGluAlaValGlnPhePheAsnValThrThrLeuGlnLysGluLeuTyrAspPheAlaLysGluAsnIleMetAspAspAspGluGlyGluValValGluTyrValAspAspLeuLeuGluLeuGluGluThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658664737",
      "coordinates": [
        {
          "allele": "G",
          "end": 564,
          "referenceAllele": "C",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002379",
      "geneNCBI_id": 10491,
      "geneSymbol": "CRTAP",
      "hgvs": [
        "NM_006371.4:c.444C>G",
        "LRG_4t1:c.444C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006362.1:p.Tyr148Ter",
        "hgvsWellDefined": "NP_006362.1:p.Tyr148_Ser401delinsLysPheLeuGlnPheAlaTyrPheLysAlaAsnAsnLeuProLysAlaIleAlaAlaAlaHisThrPheLeuLeuLysHisProAspAspGluMetMetLysArgAsnMetAlaTyrTyrLysSerLeuProGlyAlaGluAspTyrIleLysAspLeuGluThrLysSerTyrGluSerLeuPheIleArgAlaValArgAlaTyrAsnGlyGluAsnTrpArgThrSerIleThrAspMetGluLeuAlaLeuProAspPhePheLysAlaPheTyrGluCysLeuAlaAlaCysGluGlySerArgGluIleLysAspPheLysAspPheTyrLeuSerIleAlaAspHisTyrValGluValLeuGluCysLysIleGlnCysGluGluAsnLeuThrProValIleGlyGlyTyrProValGluLysPheValAlaThrMetTyrHisTyrLeuGlnPheAlaTyrTyrLysLeuAsnAspLeuLysAsnAlaAlaProCysAlaValSerTyrLeuLeuPheAspGlnAsnAspLysValMetGlnGlnAsnLeuValTyrTyrGlnTyrHisArgAspThrTrpGlyLeuSerAspGluHisPheGlnProArgProGluAlaValGlnPhePheAsnValThrThrLeuGlnLysGluLeuTyrAspPheAlaLysGluAsnIleMetAspAspAspGluGlyGluValValGluTyrValAspAspLeuLeuGluLeuGluGluThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031389"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658664737",
      "coordinates": [
        {
          "allele": "G",
          "end": 508,
          "referenceAllele": "C",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002379",
      "geneNCBI_id": 10491,
      "geneSymbol": "CRTAP",
      "hgvs": [
        "NM_006371.5:c.444C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006362.1:p.Tyr148Ter",
        "hgvsWellDefined": "NP_006362.1:p.Tyr148_Ser401delinsLysPheLeuGlnPheAlaTyrPheLysAlaAsnAsnLeuProLysAlaIleAlaAlaAlaHisThrPheLeuLeuLysHisProAspAspGluMetMetLysArgAsnMetAlaTyrTyrLysSerLeuProGlyAlaGluAspTyrIleLysAspLeuGluThrLysSerTyrGluSerLeuPheIleArgAlaValArgAlaTyrAsnGlyGluAsnTrpArgThrSerIleThrAspMetGluLeuAlaLeuProAspPhePheLysAlaPheTyrGluCysLeuAlaAlaCysGluGlySerArgGluIleLysAspPheLysAspPheTyrLeuSerIleAlaAspHisTyrValGluValLeuGluCysLysIleGlnCysGluGluAsnLeuThrProValIleGlyGlyTyrProValGluLysPheValAlaThrMetTyrHisTyrLeuGlnPheAlaTyrTyrLysLeuAsnAspLeuLysAsnAlaAlaProCysAlaValSerTyrLeuLeuPheAspGlnAsnAspLysValMetGlnGlnAsnLeuValTyrTyrGlnTyrHisArgAspThrTrpGlyLeuSerAspGluHisPheGlnProArgProGluAlaValGlnPhePheAsnValThrThrLeuGlnLysGluLeuTyrAspPheAlaLysGluAsnIleMetAspAspAspGluGlyGluValValGluTyrValAspAspLeuLeuGluLeuGluGluThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696688",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320954.11:c.444C>G"
          },
          "RefSeq": {
            "hgvs": "NM_006371.5:c.444C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323696.5:p.Tyr148Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006362.1:p.Tyr148Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829197179",
      "coordinates": [
        {
          "allele": "G",
          "end": 508,
          "referenceAllele": "C",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002379",
      "geneNCBI_id": 10491,
      "geneSymbol": "CRTAP",
      "hgvs": [
        "NM_001393363.1:c.444C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001380292.1:p.Tyr148Ter",
        "hgvsWellDefined": "NP_001380292.1:p.Tyr148_Ser373delinsLysPheLeuGlnPheAlaTyrPheLysAlaAsnAsnLeuProLysAlaIleAlaAlaAlaHisThrPheLeuLeuLysHisProAspAspGluMetMetLysArgAsnMetAlaTyrTyrLysSerLeuProGlyAlaGluAspTyrIleLysAspLeuGluThrLysSerTyrGluSerLeuPheIleArgAlaValArgAlaTyrAsnGlyGluAsnTrpArgThrSerIleThrAspMetGluLeuAlaLeuProAspPhePheLysAlaPheTyrGluCysLeuAlaAlaCysGluGlySerArgGluIleLysAspPheLysAspPheTyrLeuSerIleAlaAspHisTyrValGluValLeuGluCysLysIleGlnCysGluGluAsnLeuThrProValIleGlyGlyTyrProValGluLysPheValAlaThrMetTyrHisTyrLeuGlnPheAlaTyrTyrLysLeuAsnAspLeuLysAsnAlaAlaProCysAlaValSerTyrLeuLeuPheAspGlnAsnAspLysValMetGlnGlnAsnLeuValTyrTyrGlnTyrHisArgAspThrTrpGlyLeuSerAspGluHisPheGlnProArgProGlyGluValValGluTyrValAspAspLeuLeuGluLeuGluGluThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726528"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829197439",
      "coordinates": [
        {
          "allele": "G",
          "end": 508,
          "referenceAllele": "C",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002379",
      "geneNCBI_id": 10491,
      "geneSymbol": "CRTAP",
      "hgvs": [
        "NM_001393364.1:c.444C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001380293.1:p.Tyr148Ter",
        "hgvsWellDefined": "NP_001380293.1:p.Tyr148_Ser358delinsLysPheLeuGlnPheAlaTyrPheLysAlaAsnAsnLeuProLysAlaIleAlaAlaAlaHisThrPheLeuLeuLysHisProAspAspGluMetMetLysArgAsnMetAlaTyrTyrLysSerLeuProGlyAlaGluAspTyrIleLysAspLeuGluThrLysSerTyrGluSerLeuPheIleArgAlaValArgAlaTyrAsnGlyGluAsnTrpArgThrSerIleThrAspMetGluLeuAlaLeuProAspPhePheLysAlaPheTyrGluCysLeuAlaAlaCysGluGlySerArgGluIleLysAspPheLysAspPheTyrLeuSerIleAlaValAsnAspLeuLysAsnAlaAlaProCysAlaValSerTyrLeuLeuPheAspGlnAsnAspLysValMetGlnGlnAsnLeuValTyrTyrGlnTyrHisArgAspThrTrpGlyLeuSerAspGluHisPheGlnProArgProGluAlaValGlnPhePheAsnValThrThrLeuGlnLysGluLeuTyrAspPheAlaLysGluAsnIleMetAspAspAspGluGlyGluValValGluTyrValAspAspLeuLeuGluLeuGluGluThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829197686",
      "coordinates": [
        {
          "allele": "G",
          "end": 508,
          "referenceAllele": "C",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002379",
      "geneNCBI_id": 10491,
      "geneSymbol": "CRTAP",
      "hgvs": [
        "NM_001393365.1:c.444C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001380294.1:p.Tyr148Ter",
        "hgvsWellDefined": "NP_001380294.1:p.Tyr148_Ser351delinsLysPheLeuGlnPheAlaTyrPheLysSerLeuPheIleArgAlaValArgAlaTyrAsnGlyGluAsnTrpArgThrSerIleThrAspMetGluLeuAlaLeuProAspPhePheLysAlaPheTyrGluCysLeuAlaAlaCysGluGlySerArgGluIleLysAspPheLysAspPheTyrLeuSerIleAlaAspHisTyrValGluValLeuGluCysLysIleGlnCysGluGluAsnLeuThrProValIleGlyGlyTyrProValGluLysPheValAlaThrMetTyrHisTyrLeuGlnPheAlaTyrTyrLysLeuAsnAspLeuLysAsnAlaAlaProCysAlaValSerTyrLeuLeuPheAspGlnAsnAspLysValMetGlnGlnAsnLeuValTyrTyrGlnTyrHisArgAspThrTrpGlyLeuSerAspGluHisPheGlnProArgProGluAlaValGlnPhePheAsnValThrThrLeuGlnLysGluLeuTyrAspPheAlaLysGluAsnIleMetAspAspAspGluGlyGluValValGluTyrValAspAspLeuLeuGluLeuGluGluThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726530"
    }
  ],
  "type": "nucleotide"
}