{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342932",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.2567C>A (p.Ser856Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42006104G>T?assembly=hg19",
        "id": "chr7:g.42006104G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.41966506G>T?assembly=hg38",
        "id": "chr7:g.41966506G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/116840760",
        "rs": 116840760
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 41966506,
          "referenceAllele": "G",
          "start": 41966505
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41966506G>T",
        "CM000669.2:g.41966506G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 42006104,
          "referenceAllele": "G",
          "start": 42006103
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42006104G>T",
        "CM000669.1:g.42006104G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 41972629,
          "referenceAllele": "G",
          "start": 41972628
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41972629G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 275515,
          "referenceAllele": "C",
          "start": 275514
        }
      ],
      "hgvs": [
        "NG_008434.1:g.275515C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2848,
          "referenceAllele": "C",
          "start": 2847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.2567C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Ser856Ter",
        "hgvsWellDefined": "ENSP00000379258.3:p.Ser856_Gln1580delinsAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.2567C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.2567C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Ser856Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Ser856Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2524,
          "referenceAllele": "C",
          "start": 2523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.2393C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Ser798Ter",
        "hgvsWellDefined": "ENSP00000503986.1:p.Ser798_Gln1522delinsAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2666,
          "referenceAllele": "C",
          "start": 2665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.2567C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Ser856Ter",
        "hgvsWellDefined": "ENSP00000503743.1:p.Ser856_Gln1580delinsAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2680,
          "referenceAllele": "C",
          "start": 2679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.2567C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Ser856Ter",
        "hgvsWellDefined": "ENSP00000502957.1:p.Ser856_Gln1580delinsAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2652,
          "referenceAllele": "C",
          "start": 2651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.2567C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Ser856Ter",
        "hgvsWellDefined": "ENSP00000379258.3:p.Ser856_Gln1580delinsAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2544,
          "referenceAllele": "C",
          "start": 2543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.2544C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342933",
      "coordinates": [
        {
          "allele": "A",
          "end": 2658,
          "referenceAllele": "C",
          "start": 2657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.2567C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Ser856Ter",
        "hgvsWellDefined": "NP_000159.3:p.Ser856_Gln1580delinsAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2696,
          "referenceAllele": "C",
          "start": 2695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.2567C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Ser856Ter",
        "hgvsWellDefined": "XP_005249760.1:p.Ser856_Gln1580delinsAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2885,
          "referenceAllele": "C",
          "start": 2884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.2567C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Ser856Ter",
        "hgvsWellDefined": "XP_005249761.1:p.Ser856_Gln1580delinsAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2675,
          "referenceAllele": "C",
          "start": 2674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.2567C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Ser856Ter",
        "hgvsWellDefined": "XP_011513574.1:p.Ser856_Gln1580delinsAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2728,
          "referenceAllele": "C",
          "start": 2727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.2567C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Ser856Ter",
        "hgvsWellDefined": "XP_011513575.1:p.Ser856_Gln1580delinsAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2544,
          "referenceAllele": "C",
          "start": 2543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.2390C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Ser797Ter",
        "hgvsWellDefined": "XP_011513576.1:p.Ser797_Gln1521delinsAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5282,
          "referenceAllele": "C",
          "start": 5281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.2390C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Ser797Ter",
        "hgvsWellDefined": "XP_011513576.1:p.Ser797_Gln1521delinsAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5315,
          "referenceAllele": "C",
          "start": 5314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.2564C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Ser855Ter",
        "hgvsWellDefined": "XP_016867486.1:p.Ser855_Gln1579delinsAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342933",
      "coordinates": [
        {
          "allele": "A",
          "end": 2848,
          "referenceAllele": "C",
          "start": 2847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.2567C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Ser856Ter",
        "hgvsWellDefined": "NP_000159.3:p.Ser856_Gln1580delinsAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.2567C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.2567C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Ser856Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Ser856Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}