{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342931",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.2483del (p.Pro828ArgfsTer14)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42006188del?assembly=hg19",
        "id": "chr7:g.42006188del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.41966590del?assembly=hg38",
        "id": "chr7:g.41966590del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/116840759",
        "rs": 116840759
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 41966592,
          "referenceAllele": "G",
          "start": 41966591
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41966592del",
        "CM000669.2:g.41966592del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 42006190,
          "referenceAllele": "G",
          "start": 42006189
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42006190del",
        "CM000669.1:g.42006190del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 41972715,
          "referenceAllele": "G",
          "start": 41972714
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41972715del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 275431,
          "referenceAllele": "C",
          "start": 275430
        }
      ],
      "hgvs": [
        "NG_008434.1:g.275431del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2764,
          "referenceAllele": "C",
          "start": 2763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.2483del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Pro828ArgfsTer14",
        "hgvsWellDefined": "ENSP00000379258.3:p.[Pro828_Gly829del;Ser831_Val838delinsAlaGluAla;Met840Ser;Asn842_Ser852delinsGlyTrp;Ile854del;Ser856_Ala857delinsLeuCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.2483del"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.2483del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Pro828ArgfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Pro828ArgfsTer14"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2440,
          "referenceAllele": "C",
          "start": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.2309del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Pro770ArgfsTer14",
        "hgvsWellDefined": "ENSP00000503986.1:p.[Pro770_Gly771del;Ser773_Val780delinsAlaGluAla;Met782Ser;Asn784_Ser794delinsGlyTrp;Ile796del;Ser798_Ala799delinsLeuCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2582,
          "referenceAllele": "C",
          "start": 2581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.2483del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Pro828ArgfsTer14",
        "hgvsWellDefined": "ENSP00000503743.1:p.[Pro828_Gly829del;Ser831_Val838delinsAlaGluAla;Met840Ser;Asn842_Ser852delinsGlyTrp;Ile854del;Ser856_Ala857delinsLeuCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2596,
          "referenceAllele": "C",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.2483del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Pro828ArgfsTer14",
        "hgvsWellDefined": "ENSP00000502957.1:p.[Pro828_Gly829del;Ser831_Val838delinsAlaGluAla;Met840Ser;Asn842_Ser852delinsGlyTrp;Ile854del;Ser856_Ala857delinsLeuCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2568,
          "referenceAllele": "C",
          "start": 2567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.2483del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Pro828ArgfsTer14",
        "hgvsWellDefined": "ENSP00000379258.3:p.[Pro828_Gly829del;Ser831_Val838delinsAlaGluAla;Met840Ser;Asn842_Ser852delinsGlyTrp;Ile854del;Ser856_Ala857delinsLeuCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2460,
          "referenceAllele": "C",
          "start": 2459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.2460del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2574,
          "referenceAllele": "C",
          "start": 2573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.2483del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Pro828ArgfsTer14",
        "hgvsWellDefined": "NP_000159.3:p.[Pro828_Gly829del;Ser831_Val838delinsAlaGluAla;Met840Ser;Asn842_Ser852delinsGlyTrp;Ile854del;Ser856_Ala857delinsLeuCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2612,
          "referenceAllele": "C",
          "start": 2611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.2483del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Pro828ArgfsTer14",
        "hgvsWellDefined": "XP_005249760.1:p.[Pro828_Gly829del;Ser831_Val838delinsAlaGluAla;Met840Ser;Asn842_Ser852delinsGlyTrp;Ile854del;Ser856_Ala857delinsLeuCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2801,
          "referenceAllele": "C",
          "start": 2800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.2483del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Pro828ArgfsTer14",
        "hgvsWellDefined": "XP_005249761.1:p.[Pro828_Gly829del;Ser831_Val838delinsAlaGluAla;Met840Ser;Asn842_Ser852delinsGlyTrp;Ile854del;Ser856_Ala857delinsLeuCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2591,
          "referenceAllele": "C",
          "start": 2590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.2483del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Pro828ArgfsTer14",
        "hgvsWellDefined": "XP_011513574.1:p.[Pro828_Gly829del;Ser831_Val838delinsAlaGluAla;Met840Ser;Asn842_Ser852delinsGlyTrp;Ile854del;Ser856_Ala857delinsLeuCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2644,
          "referenceAllele": "C",
          "start": 2643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.2483del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Pro828ArgfsTer14",
        "hgvsWellDefined": "XP_011513575.1:p.[Pro828_Gly829del;Ser831_Val838delinsAlaGluAla;Met840Ser;Asn842_Ser852delinsGlyTrp;Ile854del;Ser856_Ala857delinsLeuCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2460,
          "referenceAllele": "C",
          "start": 2459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.2306del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Pro769ArgfsTer14",
        "hgvsWellDefined": "XP_011513576.1:p.[Pro769_Gly770del;Ser772_Val779delinsAlaGluAla;Met781Ser;Asn783_Ser793delinsGlyTrp;Ile795del;Ser797_Ala798delinsLeuCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5198,
          "referenceAllele": "C",
          "start": 5197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.2306del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Pro769ArgfsTer14",
        "hgvsWellDefined": "XP_011513576.1:p.[Pro769_Gly770del;Ser772_Val779delinsAlaGluAla;Met781Ser;Asn783_Ser793delinsGlyTrp;Ile795del;Ser797_Ala798delinsLeuCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5231,
          "referenceAllele": "C",
          "start": 5230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.2480del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Pro827ArgfsTer14",
        "hgvsWellDefined": "XP_016867486.1:p.[Pro827_Gly828del;Ser830_Val837delinsAlaGluAla;Met839Ser;Asn841_Ser851delinsGlyTrp;Ile853del;Ser855_Ala856delinsLeuCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2764,
          "referenceAllele": "C",
          "start": 2763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.2483del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Pro828ArgfsTer14",
        "hgvsWellDefined": "NP_000159.3:p.[Pro828_Gly829del;Ser831_Val838delinsAlaGluAla;Met840Ser;Asn842_Ser852delinsGlyTrp;Ile854del;Ser856_Ala857delinsLeuCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.2483del"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.2483del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Pro828ArgfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Pro828ArgfsTer14"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}