{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342934",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.2620del (p.Arg874AlafsTer16)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42006051del?assembly=hg19",
        "id": "chr7:g.42006051del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.41966453del?assembly=hg38",
        "id": "chr7:g.41966453del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/116840761",
        "rs": 116840761
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 41966454,
          "referenceAllele": "G",
          "start": 41966453
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41966454del",
        "CM000669.2:g.41966454del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 42006052,
          "referenceAllele": "G",
          "start": 42006051
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42006052del",
        "CM000669.1:g.42006052del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 41972577,
          "referenceAllele": "G",
          "start": 41972576
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41972577del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 275568,
          "referenceAllele": "C",
          "start": 275567
        }
      ],
      "hgvs": [
        "NG_008434.1:g.275568del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2901,
          "referenceAllele": "C",
          "start": 2900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.2620del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Arg874AlafsTer16",
        "hgvsWellDefined": "ENSP00000379258.3:p.[Arg874_Glu878delinsAlaAlaPro;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser899delinsGlyArgArg;Asp901_Ser903del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.2620del"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.2620del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Arg874AlafsTer16"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Arg874AlafsTer16"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2577,
          "referenceAllele": "C",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.2446del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Arg816AlafsTer16",
        "hgvsWellDefined": "ENSP00000503986.1:p.[Arg816_Glu820delinsAlaAlaPro;Ser822_Gly826delinsArgArgHis;Gln829_Val833delinsArg;Asp835_Ser841delinsGlyArgArg;Asp843_Ser845del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2719,
          "referenceAllele": "C",
          "start": 2718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.2620del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Arg874AlafsTer16",
        "hgvsWellDefined": "ENSP00000503743.1:p.[Arg874_Glu878delinsAlaAlaPro;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser899delinsGlyArgArg;Asp901_Ser903del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2733,
          "referenceAllele": "C",
          "start": 2732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.2620del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Arg874AlafsTer16",
        "hgvsWellDefined": "ENSP00000502957.1:p.[Arg874_Glu878delinsAlaAlaPro;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser899delinsGlyArgArg;Asp901_Ser903del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2705,
          "referenceAllele": "C",
          "start": 2704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.2620del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Arg874AlafsTer16",
        "hgvsWellDefined": "ENSP00000379258.3:p.[Arg874_Glu878delinsAlaAlaPro;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser899delinsGlyArgArg;Asp901_Ser903del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2597,
          "referenceAllele": "C",
          "start": 2596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.2597del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2711,
          "referenceAllele": "C",
          "start": 2710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.2620del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Arg874AlafsTer16",
        "hgvsWellDefined": "NP_000159.3:p.[Arg874_Glu878delinsAlaAlaPro;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser899delinsGlyArgArg;Asp901_Ser903del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2749,
          "referenceAllele": "C",
          "start": 2748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.2620del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Arg874AlafsTer16",
        "hgvsWellDefined": "XP_005249760.1:p.[Arg874_Glu878delinsAlaAlaPro;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser899delinsGlyArgArg;Asp901_Ser903del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2938,
          "referenceAllele": "C",
          "start": 2937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.2620del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Arg874AlafsTer16",
        "hgvsWellDefined": "XP_005249761.1:p.[Arg874_Glu878delinsAlaAlaPro;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser899delinsGlyArgArg;Asp901_Ser903del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2728,
          "referenceAllele": "C",
          "start": 2727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.2620del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Arg874AlafsTer16",
        "hgvsWellDefined": "XP_011513574.1:p.[Arg874_Glu878delinsAlaAlaPro;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser899delinsGlyArgArg;Asp901_Ser903del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2781,
          "referenceAllele": "C",
          "start": 2780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.2620del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Arg874AlafsTer16",
        "hgvsWellDefined": "XP_011513575.1:p.[Arg874_Glu878delinsAlaAlaPro;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser899delinsGlyArgArg;Asp901_Ser903del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2597,
          "referenceAllele": "C",
          "start": 2596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.2443del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Arg815AlafsTer16",
        "hgvsWellDefined": "XP_011513576.1:p.[Arg815_Glu819delinsAlaAlaPro;Ser821_Gly825delinsArgArgHis;Gln828_Val832delinsArg;Asp834_Ser840delinsGlyArgArg;Asp842_Ser844del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5335,
          "referenceAllele": "C",
          "start": 5334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.2443del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Arg815AlafsTer16",
        "hgvsWellDefined": "XP_011513576.1:p.[Arg815_Glu819delinsAlaAlaPro;Ser821_Gly825delinsArgArgHis;Gln828_Val832delinsArg;Asp834_Ser840delinsGlyArgArg;Asp842_Ser844del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5368,
          "referenceAllele": "C",
          "start": 5367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.2617del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Arg873AlafsTer16",
        "hgvsWellDefined": "XP_016867486.1:p.[Arg873_Glu877delinsAlaAlaPro;Ser879_Gly883delinsArgArgHis;Gln886_Val890delinsArg;Asp892_Ser898delinsGlyArgArg;Asp900_Ser902del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2901,
          "referenceAllele": "C",
          "start": 2900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.2620del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Arg874AlafsTer16",
        "hgvsWellDefined": "NP_000159.3:p.[Arg874_Glu878delinsAlaAlaPro;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser899delinsGlyArgArg;Asp901_Ser903del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.2620del"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.2620del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Arg874AlafsTer16"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Arg874AlafsTer16"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}