{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367315806",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.4081G>T (p.Glu1361Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3112306[alleleid]",
        "alleleId": 3112306,
        "preferredName": "NM_000168.6(GLI3):c.4081G>T (p.Glu1361Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2953926",
        "RCV": [
          "RCV003813149"
        ],
        "variationId": 2953926
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42004590C>A?assembly=hg19",
        "id": "chr7:g.42004590C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.41964992C>A?assembly=hg38",
        "id": "chr7:g.41964992C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2484366559",
        "rs": 2484366559
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 41964992,
          "referenceAllele": "C",
          "start": 41964991
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41964992C>A",
        "CM000669.2:g.41964992C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 42004590,
          "referenceAllele": "C",
          "start": 42004589
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42004590C>A",
        "CM000669.1:g.42004590C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 41971115,
          "referenceAllele": "C",
          "start": 41971114
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41971115C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 277029,
          "referenceAllele": "G",
          "start": 277028
        }
      ],
      "hgvs": [
        "NG_008434.1:g.277029G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4362,
          "referenceAllele": "G",
          "start": 4361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.4081G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Glu1361Ter",
        "hgvsWellDefined": "ENSP00000379258.3:p.Glu1361_Gln1580delinsSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.4081G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.4081G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Glu1361Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Glu1361Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4038,
          "referenceAllele": "G",
          "start": 4037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.3907G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Glu1303Ter",
        "hgvsWellDefined": "ENSP00000503986.1:p.Glu1303_Gln1522delinsSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4180,
          "referenceAllele": "G",
          "start": 4179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.4081G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Glu1361Ter",
        "hgvsWellDefined": "ENSP00000503743.1:p.Glu1361_Gln1580delinsSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4194,
          "referenceAllele": "G",
          "start": 4193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.4081G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Glu1361Ter",
        "hgvsWellDefined": "ENSP00000502957.1:p.Glu1361_Gln1580delinsSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4166,
          "referenceAllele": "G",
          "start": 4165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.4081G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Glu1361Ter",
        "hgvsWellDefined": "ENSP00000379258.3:p.Glu1361_Gln1580delinsSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4058,
          "referenceAllele": "G",
          "start": 4057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.4058G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741811925",
      "coordinates": [
        {
          "allele": "T",
          "end": 4172,
          "referenceAllele": "G",
          "start": 4171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.4081G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Glu1361Ter",
        "hgvsWellDefined": "NP_000159.3:p.Glu1361_Gln1580delinsSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4210,
          "referenceAllele": "G",
          "start": 4209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.4081G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Glu1361Ter",
        "hgvsWellDefined": "XP_005249760.1:p.Glu1361_Gln1580delinsSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4399,
          "referenceAllele": "G",
          "start": 4398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.4081G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Glu1361Ter",
        "hgvsWellDefined": "XP_005249761.1:p.Glu1361_Gln1580delinsSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4189,
          "referenceAllele": "G",
          "start": 4188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.4081G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Glu1361Ter",
        "hgvsWellDefined": "XP_011513574.1:p.Glu1361_Gln1580delinsSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4242,
          "referenceAllele": "G",
          "start": 4241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.4081G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Glu1361Ter",
        "hgvsWellDefined": "XP_011513575.1:p.Glu1361_Gln1580delinsSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4058,
          "referenceAllele": "G",
          "start": 4057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.3904G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Glu1302Ter",
        "hgvsWellDefined": "XP_011513576.1:p.Glu1302_Gln1521delinsSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6796,
          "referenceAllele": "G",
          "start": 6795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.3904G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Glu1302Ter",
        "hgvsWellDefined": "XP_011513576.1:p.Glu1302_Gln1521delinsSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6829,
          "referenceAllele": "G",
          "start": 6828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.4078G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Glu1360Ter",
        "hgvsWellDefined": "XP_016867486.1:p.Glu1360_Gln1579delinsSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741811925",
      "coordinates": [
        {
          "allele": "T",
          "end": 4362,
          "referenceAllele": "G",
          "start": 4361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.4081G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Glu1361Ter",
        "hgvsWellDefined": "NP_000159.3:p.Glu1361_Gln1580delinsSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.4081G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.4081G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Glu1361Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Glu1361Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}