{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367314874",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.4507C>T (p.Gln1503Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1496504[alleleid]",
        "alleleId": 1496504,
        "preferredName": "NM_000168.6(GLI3):c.4507C>T (p.Gln1503Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1381542",
        "RCV": [
          "RCV001895418"
        ],
        "variationId": 1381542
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42004164G>A?assembly=hg19",
        "id": "chr7:g.42004164G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.41964566G>A?assembly=hg38",
        "id": "chr7:g.41964566G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2128704828",
        "rs": 2128704828
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 41964566,
          "referenceAllele": "G",
          "start": 41964565
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41964566G>A",
        "CM000669.2:g.41964566G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 42004164,
          "referenceAllele": "G",
          "start": 42004163
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42004164G>A",
        "CM000669.1:g.42004164G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 41970689,
          "referenceAllele": "G",
          "start": 41970688
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41970689G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 277455,
          "referenceAllele": "C",
          "start": 277454
        }
      ],
      "hgvs": [
        "NG_008434.1:g.277455C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4788,
          "referenceAllele": "C",
          "start": 4787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.4507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Gln1503Ter",
        "hgvsWellDefined": "ENSP00000379258.3:p.Gln1503_Gln1580delinsIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.4507C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.4507C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Gln1503Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Gln1503Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4464,
          "referenceAllele": "C",
          "start": 4463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.4333C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Gln1445Ter",
        "hgvsWellDefined": "ENSP00000503986.1:p.Gln1445_Gln1522delinsIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4606,
          "referenceAllele": "C",
          "start": 4605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.4507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Gln1503Ter",
        "hgvsWellDefined": "ENSP00000503743.1:p.Gln1503_Gln1580delinsIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4620,
          "referenceAllele": "C",
          "start": 4619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.4507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Gln1503Ter",
        "hgvsWellDefined": "ENSP00000502957.1:p.Gln1503_Gln1580delinsIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4592,
          "referenceAllele": "C",
          "start": 4591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.4507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Gln1503Ter",
        "hgvsWellDefined": "ENSP00000379258.3:p.Gln1503_Gln1580delinsIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4484,
          "referenceAllele": "C",
          "start": 4483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.4484C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573163347",
      "coordinates": [
        {
          "allele": "T",
          "end": 4598,
          "referenceAllele": "C",
          "start": 4597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.4507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Gln1503Ter",
        "hgvsWellDefined": "NP_000159.3:p.Gln1503_Gln1580delinsIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4636,
          "referenceAllele": "C",
          "start": 4635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.4507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Gln1503Ter",
        "hgvsWellDefined": "XP_005249760.1:p.Gln1503_Gln1580delinsIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4825,
          "referenceAllele": "C",
          "start": 4824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.4507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Gln1503Ter",
        "hgvsWellDefined": "XP_005249761.1:p.Gln1503_Gln1580delinsIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4615,
          "referenceAllele": "C",
          "start": 4614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.4507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Gln1503Ter",
        "hgvsWellDefined": "XP_011513574.1:p.Gln1503_Gln1580delinsIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4668,
          "referenceAllele": "C",
          "start": 4667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.4507C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Gln1503Ter",
        "hgvsWellDefined": "XP_011513575.1:p.Gln1503_Gln1580delinsIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4484,
          "referenceAllele": "C",
          "start": 4483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.4330C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Gln1444Ter",
        "hgvsWellDefined": "XP_011513576.1:p.Gln1444_Gln1521delinsIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7222,
          "referenceAllele": "C",
          "start": 7221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.4330C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Gln1444Ter",
        "hgvsWellDefined": "XP_011513576.1:p.Gln1444_Gln1521delinsIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7255,
          "referenceAllele": "C",
          "start": 7254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.4504C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Gln1502Ter",
        "hgvsWellDefined": "XP_016867486.1:p.Gln1502_Gln1579delinsIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573163347",
      "coordinates": [
        {
          "allele": "T",
          "end": 4788,
          "referenceAllele": "C",
          "start": 4787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.4507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Gln1503Ter",
        "hgvsWellDefined": "NP_000159.3:p.Gln1503_Gln1580delinsIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.4507C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.4507C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Gln1503Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Gln1503Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}