{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401109885",
  "communityStandardTitle": [
    "NM_000154.2(GALK1):c.79G>T (p.Glu27Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4884209",
        "active": true,
        "id": "COSM4884209"
      }
    ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=548381[alleleid]",
        "alleleId": 548381,
        "preferredName": "NM_000154.2(GALK1):c.79G>T (p.Glu27Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/555568",
        "RCV": [
          "RCV000671410"
        ],
        "variationId": 555568
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73761139C>A?assembly=hg19",
        "id": "chr17:g.73761139C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75765058C>A?assembly=hg38",
        "id": "chr17:g.75765058C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555748940",
        "rs": 1555748940
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75765058-C-A?dataset=gnomad_r4",
        "id": "17-75765058-C-A",
        "variant": "17:75765058 C / A"
      }
    ]
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      "coordinates": [
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
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          "start": 73761138
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
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          "start": 71272733
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
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        }
      ],
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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000824"
    },
    {
      "coordinates": [
        {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS733316"
    }
  ],
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    {
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        {
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      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826252"
    },
    {
      "coordinates": [
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      ],
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        "hgvsWellDefined": "ENSP00000464765.2:p.Glu27_Leu362delinsProGluLeuAlaValSerAlaProGlyArgValAsnLeuIleGlyGluHisThrAspTyrAsnGlnGlyLeuValLeuProMetAlaLeuGluLeuMetThrValLeuValGlySerProArgLysAspGlyLeuValSerLeuLeuThrThrSerGluGlyAlaAspGluProGlnArgLeuGlnPheProLeuProThrAlaGlnArgSerLeuGluProGlyThrProArgTrpAlaAsnTyrValLysGlyValIleGlnTyrTyrProAlaAlaProLeuProGlyPheSerAlaValValValSerSerValProLeuGlyGlyGlyLeuSerSerSerAlaSerLeuGluValAlaThrTyrThrPheLeuGlnGlnLeuCysProAspSerGlyThrIleAlaAlaArgAlaGlnValCysGlnGlnAlaGluHisSerPheAlaGlyMetProCysGlyIleMetAspGlnPheIleSerLeuMetGlyGlnLysGlyHisAlaLeuLeuIleAspCysSerGluTyrProValArgArgArgGlnCysGluGluValAlaArgAlaLeuGlyLysGluSerLeuArgGluValGlnLeuGluGluLeuGluAlaAlaArgAspLeuValSerLysGluGlyPheArgArgAlaArgHisValValGlyGluIleArgArgThrAlaGlnAlaAlaAlaAlaLeuArgArgGlyAspTyrArgAlaPheGlyArgLeuMetValGluSerHisArgSerLeuArgAspAspTyrGluValSerCysProGluLeuAspGlnLeuValGluAlaAlaLeuAlaValProGlyValTyrGlySerArgMetThrGlyGlyGlyPheGlyGlyCysThrValThrLeuLeuGluAlaSerAlaAlaProHisAlaMetArgHisIleGlnGluHisTyrGlyGlyThrAlaThrPheTyrLeuSerGlnAlaAlaAspGlyAlaLysValLeuCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826291"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761125",
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          }
        },
        "protein": {
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          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 178
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 134
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      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000468288.1:p.Glu27_Pro120delinsProGluLeuAlaValSerAlaProGlyArgValAsnLeuIleGlyGluHisThrAspTyrAsnGlnGlyLeuValLeuProMetAlaLeuGluLeuMetThrValLeuValGlySerProArgLysAspGlyLeuValSerLeuLeuThrThrSerGluGlyAlaAspGluProGlnArgLeuGlnPheProLeuProThrAlaGlnArgSerLeuGluProGlyThrProArgTrpAlaAsnTyrValLysGlyValIleGlnTyrTyrProGluProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389263"
    },
    {
      "coordinates": [
        {
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      ],
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "G",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100,
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          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393606"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658826338",
      "coordinates": [
        {
          "allele": "T",
          "end": 142,
          "referenceAllele": "G",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "NM_000154.1:c.79G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000145.1:p.Glu27Ter",
        "hgvsWellDefined": "NP_000145.1:p.Glu27_Leu392delinsProGluLeuAlaValSerAlaProGlyArgValAsnLeuIleGlyGluHisThrAspTyrAsnGlnGlyLeuValLeuProMetAlaLeuGluLeuMetThrValLeuValGlySerProArgLysAspGlyLeuValSerLeuLeuThrThrSerGluGlyAlaAspGluProGlnArgLeuGlnPheProLeuProThrAlaGlnArgSerLeuGluProGlyThrProArgTrpAlaAsnTyrValLysGlyValIleGlnTyrTyrProAlaAlaProLeuProGlyPheSerAlaValValValSerSerValProLeuGlyGlyGlyLeuSerSerSerAlaSerLeuGluValAlaThrTyrThrPheLeuGlnGlnLeuCysProAspSerGlyThrIleAlaAlaArgAlaGlnValCysGlnGlnAlaGluHisSerPheAlaGlyMetProCysGlyIleMetAspGlnPheIleSerLeuMetGlyGlnLysGlyHisAlaLeuLeuIleAspCysArgSerLeuGluThrSerLeuValProLeuSerAspProLysLeuAlaValLeuIleThrAsnSerAsnValArgHisSerLeuAlaSerSerGluTyrProValArgArgArgGlnCysGluGluValAlaArgAlaLeuGlyLysGluSerLeuArgGluValGlnLeuGluGluLeuGluAlaAlaArgAspLeuValSerLysGluGlyPheArgArgAlaArgHisValValGlyGluIleArgArgThrAlaGlnAlaAlaAlaAlaLeuArgArgGlyAspTyrArgAlaPheGlyArgLeuMetValGluSerHisArgSerLeuArgAspAspTyrGluValSerCysProGluLeuAspGlnLeuValGluAlaAlaLeuAlaValProGlyValTyrGlySerArgMetThrGlyGlyGlyPheGlyGlyCysThrValThrLeuLeuGluAlaSerAlaAlaProHisAlaMetArgHisIleGlnGluHisTyrGlyGlyThrAlaThrPheTyrLeuSerGlnAlaAlaAspGlyAlaLysValLeuCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006216"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658826338",
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        {
          "allele": "T",
          "end": 135,
          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_000145.1:p.Glu27Ter",
        "hgvsWellDefined": "NP_000145.1:p.Glu27_Leu392delinsProGluLeuAlaValSerAlaProGlyArgValAsnLeuIleGlyGluHisThrAspTyrAsnGlnGlyLeuValLeuProMetAlaLeuGluLeuMetThrValLeuValGlySerProArgLysAspGlyLeuValSerLeuLeuThrThrSerGluGlyAlaAspGluProGlnArgLeuGlnPheProLeuProThrAlaGlnArgSerLeuGluProGlyThrProArgTrpAlaAsnTyrValLysGlyValIleGlnTyrTyrProAlaAlaProLeuProGlyPheSerAlaValValValSerSerValProLeuGlyGlyGlyLeuSerSerSerAlaSerLeuGluValAlaThrTyrThrPheLeuGlnGlnLeuCysProAspSerGlyThrIleAlaAlaArgAlaGlnValCysGlnGlnAlaGluHisSerPheAlaGlyMetProCysGlyIleMetAspGlnPheIleSerLeuMetGlyGlnLysGlyHisAlaLeuLeuIleAspCysArgSerLeuGluThrSerLeuValProLeuSerAspProLysLeuAlaValLeuIleThrAsnSerAsnValArgHisSerLeuAlaSerSerGluTyrProValArgArgArgGlnCysGluGluValAlaArgAlaLeuGlyLysGluSerLeuArgGluValGlnLeuGluGluLeuGluAlaAlaArgAspLeuValSerLysGluGlyPheArgArgAlaArgHisValValGlyGluIleArgArgThrAlaGlnAlaAlaAlaAlaLeuArgArgGlyAspTyrArgAlaPheGlyArgLeuMetValGluSerHisArgSerLeuArgAspAspTyrGluValSerCysProGluLeuAspGlnLeuValGluAlaAlaLeuAlaValProGlyValTyrGlySerArgMetThrGlyGlyGlyPheGlyGlyCysThrValThrLeuLeuGluAlaSerAlaAlaProHisAlaMetArgHisIleGlnGluHisTyrGlyGlyThrAlaThrPheTyrLeuSerGlnAlaAlaAspGlyAlaLysValLeuCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588479.6:c.79G>T"
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          "RefSeq": {
            "hgvs": "NM_000154.2:c.79G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000465930.1:p.Glu27Ter"
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          "RefSeq": {
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          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 135,
          "referenceAllele": "G",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004118",
      "geneNCBI_id": 2584,
      "geneSymbol": "GALK1",
      "hgvs": [
        "NM_001381985.1:c.79G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001368914.1:p.Glu27Ter",
        "hgvsWellDefined": "NP_001368914.1:p.Glu27_Leu392delinsProGluLeuAlaValSerAlaProGlyArgValAsnLeuIleGlyGluHisThrAspTyrAsnGlnGlyLeuValLeuProMetAlaLeuGluLeuMetThrValLeuValGlySerProArgLysAspGlyLeuValSerLeuLeuThrThrSerGluGlyAlaAspGluProGlnArgLeuGlnPheProLeuProThrAlaGlnArgSerLeuGluProGlyThrProArgTrpAlaAsnTyrValLysGlyValIleGlnTyrTyrProAlaAlaProLeuProGlyPheSerAlaValValValSerSerValProLeuGlyGlyGlyLeuSerSerSerAlaSerLeuGluValAlaThrTyrThrPheLeuGlnGlnLeuCysProAspSerGlyThrIleAlaAlaArgAlaGlnValCysGlnGlnAlaGluHisSerPheAlaGlyMetProCysGlyIleMetAspGlnPheIleSerLeuMetGlyGlnLysGlyHisAlaLeuLeuIleAspCysArgSerLeuGluThrSerLeuValProLeuSerAspProLysLeuAlaValLeuIleThrAsnSerAsnValArgHisSerLeuAlaSerSerGluTyrProValArgArgArgGlnCysGluGluValAlaArgAlaLeuGlyLysGluSerLeuArgGluValGlnLeuGluGluLeuGluAlaAlaArgAspLeuValSerLysGluGlyPheArgArgAlaArgHisValValGlyGluIleArgArgThrAlaGlnAlaAlaAlaAlaLeuArgArgGlyAspTyrArgAlaPheGlyArgLeuMetValGluSerHisArgSerLeuArgAspAspTyrGluValSerCysProGluLeuAspGlnLeuValGluAlaAlaLeuAlaValProGlyValTyrGlySerArgMetThrGlyGlyGlyPheGlyGlyCysThrValThrLeuLeuGluAlaSerAlaAlaProHisAlaMetArgHisIleGlnGluHisTyrGlyGlyThrAlaThrPheTyrLeuSerGlnAlaAlaAspGlyAlaLysValLeuCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722163"
    }
  ],
  "type": "nucleotide"
}