{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA049219",
  "communityStandardTitle": [
    "NM_000281.4(PCBD1):c.[79G>T;263G>A] (p.Glu27Ter)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 70884002,
          "referenceAllele": "C",
          "start": 70884001
        },
        {
          "allele": "A",
          "end": 70885854,
          "referenceAllele": "C",
          "start": 70885853
        }
      ],
      "hgvs": [
        "NC_000010.11:g.[70884002C>T;70885854C>A]",
        "CM000672.2:g.[70884002C>T;70885854C>A]"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 72643759,
          "referenceAllele": "C",
          "start": 72643758
        },
        {
          "allele": "A",
          "end": 72645611,
          "referenceAllele": "C",
          "start": 72645610
        }
      ],
      "hgvs": [
        "NC_000010.10:g.[72643759C>T;72645611C>A]",
        "CM000672.1:g.[72643759C>T;72645611C>A]"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 72313765,
          "referenceAllele": "C",
          "start": 72313764
        },
        {
          "allele": "A",
          "end": 72315617,
          "referenceAllele": "C",
          "start": 72315616
        }
      ],
      "hgvs": [
        "NC_000010.9:g.[72313765C>T;72315617C>A]"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7931,
          "referenceAllele": "G",
          "start": 7930
        },
        {
          "allele": "A",
          "end": 9783,
          "referenceAllele": "G",
          "start": 9782
        }
      ],
      "hgvs": [
        "NG_008646.1:g.[7931G>T;9783G>A]"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001141"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 950,
          "endIntronDirection": "-",
          "endIntronOffset": 9756,
          "referenceAllele": "C",
          "start": 950,
          "startIntronDirection": "-",
          "startIntronOffset": 9757
        },
        {
          "allele": "A",
          "end": 950,
          "endIntronDirection": "-",
          "endIntronOffset": 7904,
          "referenceAllele": "C",
          "start": 950,
          "startIntronDirection": "-",
          "startIntronOffset": 7905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010817",
      "geneNCBI_id": 8879,
      "geneSymbol": "SGPL1",
      "hgvs": [
        "ENST00000697988.1:c.[571-9757C>T;571-7905C>A]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513492.1:n.[571-9757C>T;571-7905C>A]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111,
          "referenceAllele": "G",
          "start": 110
        },
        {
          "allele": "A",
          "end": 295,
          "referenceAllele": "G",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008646",
      "geneNCBI_id": 5092,
      "geneSymbol": "PCBD1",
      "hgvs": [
        "ENST00000299299.4:c.[79G>T;263G>A]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299299.3:p.Glu27Ter",
        "hgvsWellDefined": "ENSP00000299299.3:p.Glu27_Thr104delinsLeuGluGlyArgAspAlaIlePheLysGlnPheHisPheLysAspPheAsnArgAlaPheGlyPheMetThrArgValAlaLeuGlnAlaGluLysLeuAspHisHisProGluTrpPheAsnValTyrAsnLysValHisIleThrLeuSerThrHisGluCysAlaGlyLeuSerGluArgAspIleAsnLeuAlaSerPheIleGluGlnValAlaValSerMetThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744659",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299299.4:c.[79G>T;263G>A]"
          },
          "RefSeq": {
            "hgvs": "NM_000281.4:c.[79G>T;263G>A]"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299299.3:p.Glu27Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000272.1:p.Glu27Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 330,
          "referenceAllele": "G",
          "start": 329
        },
        {
          "allele": "A",
          "end": 514,
          "referenceAllele": "G",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008646",
      "geneNCBI_id": 5092,
      "geneSymbol": "PCBD1",
      "hgvs": [
        "ENST00000299299.3:c.[79G>T;263G>A]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299299.3:p.Glu27Ter",
        "hgvsWellDefined": "ENSP00000299299.3:p.Glu27_Thr104delinsLeuGluGlyArgAspAlaIlePheLysGlnPheHisPheLysAspPheAsnArgAlaPheGlyPheMetThrArgValAlaLeuGlnAlaGluLysLeuAspHisHisProGluTrpPheAsnValTyrAsnLysValHisIleThrLeuSerThrHisGluCysAlaGlyLeuSerGluArgAspIleAsnLeuAlaSerPheIleGluGlnValAlaValSerMetThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 478,
          "referenceAllele": "G",
          "start": 477
        },
        {
          "allele": "A",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008646",
      "geneNCBI_id": 5092,
      "geneSymbol": "PCBD1",
      "hgvs": [
        "ENST00000493228.1:n.[478G>T;662G>A]"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46,
          "referenceAllele": "G",
          "start": 45
        },
        {
          "allele": "A",
          "end": 183,
          "endIntronDirection": "+",
          "endIntronOffset": 1150,
          "referenceAllele": "G",
          "start": 183,
          "startIntronDirection": "+",
          "startIntronOffset": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008646",
      "geneNCBI_id": 5092,
      "geneSymbol": "PCBD1",
      "hgvs": [
        "ENST00000493961.5:n.[46G>T;183+1150G>A]"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA049203",
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "referenceAllele": "G",
          "start": 331
        },
        {
          "allele": "A",
          "end": 516,
          "referenceAllele": "G",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008646",
      "geneNCBI_id": 5092,
      "geneSymbol": "PCBD1",
      "hgvs": [
        "NM_000281.3:c.[79G>T;263G>A]"
      ],
      "proteinEffect": {
        "hgvs": "NP_000272.1:p.Glu27Ter",
        "hgvsWellDefined": "NP_000272.1:p.Glu27_Thr104delinsLeuGluGlyArgAspAlaIlePheLysGlnPheHisPheLysAspPheAsnArgAlaPheGlyPheMetThrArgValAlaLeuGlnAlaGluLysLeuAspHisHisProGluTrpPheAsnValTyrAsnLysValHisIleThrLeuSerThrHisGluCysAlaGlyLeuSerGluArgAspIleAsnLeuAlaSerPheIleGluGlnValAlaValSerMetThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006342"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826768113",
      "coordinates": [
        {
          "allele": "T",
          "end": 478,
          "referenceAllele": "G",
          "start": 477
        },
        {
          "allele": "A",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008646",
      "geneNCBI_id": 5092,
      "geneSymbol": "PCBD1",
      "hgvs": [
        "NM_001289797.1:c.[-69G>T;116G>A]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276726.1:p.Arg39Gln",
        "hgvsWellDefined": "NP_001276726.1:p.Arg39Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 138,
          "referenceAllele": "G",
          "start": 137
        },
        {
          "allele": "A",
          "end": 275,
          "endIntronDirection": "+",
          "endIntronOffset": 1150,
          "referenceAllele": "G",
          "start": 275,
          "startIntronDirection": "+",
          "startIntronOffset": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008646",
      "geneNCBI_id": 5092,
      "geneSymbol": "PCBD1",
      "hgvs": [
        "XM_005269877.1:c.[79G>T;216+1150G>A]"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269934.1:p.Glu27Ter",
        "hgvsWellDefined": "XP_005269934.1:p.Glu27_Pro104delinsLeuGluGlyArgAspAlaIlePheLysGlnPheHisPheLysAspPheAsnArgAlaPheGlyPheMetThrArgValAlaLeuGlnAlaGluLysLeuAspHisHisProGluTrpPheAsnValTyrAsnLysValSerArgLeuGlnAlaSerGlyValGlnGlnTyrHisLeuLeuSerTrpPheSerSerLeuProThrThrAspLeuGlyThrCysGlnProProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066306"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026788",
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "referenceAllele": "G",
          "start": 331
        },
        {
          "allele": "A",
          "end": 469,
          "endIntronDirection": "+",
          "endIntronOffset": 1150,
          "referenceAllele": "G",
          "start": 469,
          "startIntronDirection": "+",
          "startIntronOffset": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008646",
      "geneNCBI_id": 5092,
      "geneSymbol": "PCBD1",
      "hgvs": [
        "NM_001323004.1:c.[79G>T;216+1150G>A]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309933.1:p.Glu27Ter",
        "hgvsWellDefined": "NP_001309933.1:p.Glu27_Pro104delinsLeuGluGlyArgAspAlaIlePheLysGlnPheHisPheLysAspPheAsnArgAlaPheGlyPheMetThrArgValAlaLeuGlnAlaGluLysLeuAspHisHisProGluTrpPheAsnValTyrAsnLysValSerArgLeuGlnAlaSerGlyValGlnGlnTyrHisLeuLeuSerTrpPheSerSerLeuProThrThrAspLeuGlyThrCysGlnProProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515230"
    },
    {
      "@id": "http://reg.genome.network/allele/PA049203",
      "coordinates": [
        {
          "allele": "T",
          "end": 111,
          "referenceAllele": "G",
          "start": 110
        },
        {
          "allele": "A",
          "end": 295,
          "referenceAllele": "G",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008646",
      "geneNCBI_id": 5092,
      "geneSymbol": "PCBD1",
      "hgvs": [
        "NM_000281.4:c.[79G>T;263G>A]"
      ],
      "proteinEffect": {
        "hgvs": "NP_000272.1:p.Glu27Ter",
        "hgvsWellDefined": "NP_000272.1:p.Glu27_Thr104delinsLeuGluGlyArgAspAlaIlePheLysGlnPheHisPheLysAspPheAsnArgAlaPheGlyPheMetThrArgValAlaLeuGlnAlaGluLysLeuAspHisHisProGluTrpPheAsnValTyrAsnLysValHisIleThrLeuSerThrHisGluCysAlaGlyLeuSerGluArgAspIleAsnLeuAlaSerPheIleGluGlnValAlaValSerMetThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662382",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299299.4:c.[79G>T;263G>A]"
          },
          "RefSeq": {
            "hgvs": "NM_000281.4:c.[79G>T;263G>A]"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299299.3:p.Glu27Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000272.1:p.Glu27Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826768113",
      "coordinates": [
        {
          "allele": "T",
          "end": 105,
          "referenceAllele": "G",
          "start": 104
        },
        {
          "allele": "A",
          "end": 289,
          "referenceAllele": "G",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008646",
      "geneNCBI_id": 5092,
      "geneSymbol": "PCBD1",
      "hgvs": [
        "NM_001289797.2:c.[-69G>T;116G>A]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276726.1:p.Arg39Gln",
        "hgvsWellDefined": "NP_001276726.1:p.Arg39Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026788",
      "coordinates": [
        {
          "allele": "T",
          "end": 111,
          "referenceAllele": "G",
          "start": 110
        },
        {
          "allele": "A",
          "end": 248,
          "endIntronDirection": "+",
          "endIntronOffset": 1150,
          "referenceAllele": "G",
          "start": 248,
          "startIntronDirection": "+",
          "startIntronOffset": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008646",
      "geneNCBI_id": 5092,
      "geneSymbol": "PCBD1",
      "hgvs": [
        "NM_001323004.2:c.[79G>T;216+1150G>A]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309933.1:p.Glu27Ter",
        "hgvsWellDefined": "NP_001309933.1:p.Glu27_Pro104delinsLeuGluGlyArgAspAlaIlePheLysGlnPheHisPheLysAspPheAsnArgAlaPheGlyPheMetThrArgValAlaLeuGlnAlaGluLysLeuAspHisHisProGluTrpPheAsnValTyrAsnLysValSerArgLeuGlnAlaSerGlyValGlnGlnTyrHisLeuLeuSerTrpPheSerSerLeuProThrThrAspLeuGlyThrCysGlnProProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685900"
    }
  ],
  "type": "nucleotide"
}