{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367317093",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.3762T>G (p.Tyr1254Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1353581[alleleid]",
        "alleleId": 1353581,
        "preferredName": "NM_000168.6(GLI3):c.3762T>G (p.Tyr1254Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1425074",
        "RCV": [
          "RCV001924251"
        ],
        "variationId": 1425074
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42004909A>C?assembly=hg19",
        "id": "chr7:g.42004909A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.41965311A>C?assembly=hg38",
        "id": "chr7:g.41965311A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148043302",
        "rs": 148043302
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 41965311,
          "referenceAllele": "A",
          "start": 41965310
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41965311A>C",
        "CM000669.2:g.41965311A>C"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 42004909,
          "referenceAllele": "A",
          "start": 42004908
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42004909A>C",
        "CM000669.1:g.42004909A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 41971434,
          "referenceAllele": "A",
          "start": 41971433
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41971434A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 276710,
          "referenceAllele": "T",
          "start": 276709
        }
      ],
      "hgvs": [
        "NG_008434.1:g.276710T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4043,
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          "start": 4042
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      ],
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      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
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        "ENST00000395925.8:c.3762T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Tyr1254Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.3762T>G"
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          "RefSeq": {
            "hgvs": "NM_000168.6:c.3762T>G"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Tyr1254Ter"
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          "RefSeq": {
            "hgvs": "NP_000159.3:p.Tyr1254Ter"
          }
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      }
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    {
      "coordinates": [
        {
          "allele": "G",
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          "start": 3718
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      "hgvs": [
        "ENST00000677288.1:c.3588T>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000503986.1:p.Tyr1196_Gln1522delinsGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3861,
          "referenceAllele": "T",
          "start": 3860
        }
      ],
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      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.3762T>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000503743.1:p.Tyr1254_Gln1580delinsGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3875,
          "referenceAllele": "T",
          "start": 3874
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000502957.1:p.Tyr1254_Gln1580delinsGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3847,
          "referenceAllele": "T",
          "start": 3846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000379258.3:p.Tyr1254_Gln1580delinsGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3739,
          "referenceAllele": "T",
          "start": 3738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
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      "hgvs": [
        "ENST00000479210.1:n.3739T>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573163334",
      "coordinates": [
        {
          "allele": "G",
          "end": 3853,
          "referenceAllele": "T",
          "start": 3852
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      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000159.3:p.Tyr1254_Gln1580delinsGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3891,
          "referenceAllele": "T",
          "start": 3890
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005249760.1:p.Tyr1254_Gln1580delinsGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4080,
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          "start": 4079
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      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005249761.1:p.Tyr1254_Gln1580delinsGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "T",
          "start": 3869
        }
      ],
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        "hgvsWellDefined": "XP_011513574.1:p.Tyr1254_Gln1580delinsGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3923,
          "referenceAllele": "T",
          "start": 3922
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      ],
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Tyr1254Ter",
        "hgvsWellDefined": "XP_011513575.1:p.Tyr1254_Gln1580delinsGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3739,
          "referenceAllele": "T",
          "start": 3738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.3585T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Tyr1195Ter",
        "hgvsWellDefined": "XP_011513576.1:p.Tyr1195_Gln1521delinsGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6477,
          "referenceAllele": "T",
          "start": 6476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.3585T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Tyr1195Ter",
        "hgvsWellDefined": "XP_011513576.1:p.Tyr1195_Gln1521delinsGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6510,
          "referenceAllele": "T",
          "start": 6509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.3759T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Tyr1253Ter",
        "hgvsWellDefined": "XP_016867486.1:p.Tyr1253_Gln1579delinsGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573163334",
      "coordinates": [
        {
          "allele": "G",
          "end": 4043,
          "referenceAllele": "T",
          "start": 4042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.3762T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Tyr1254Ter",
        "hgvsWellDefined": "NP_000159.3:p.Tyr1254_Gln1580delinsGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.3762T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.3762T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Tyr1254Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Tyr1254Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}