{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342935",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.2628del (p.Ser877AlafsTer13)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42006043del?assembly=hg19",
        "id": "chr7:g.42006043del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.41966445del?assembly=hg38",
        "id": "chr7:g.41966445del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/116840762",
        "rs": 116840762
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 41966446,
          "referenceAllele": "G",
          "start": 41966445
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41966446del",
        "CM000669.2:g.41966446del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 42006044,
          "referenceAllele": "G",
          "start": 42006043
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42006044del",
        "CM000669.1:g.42006044del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 41972569,
          "referenceAllele": "G",
          "start": 41972568
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41972569del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 275576,
          "referenceAllele": "C",
          "start": 275575
        }
      ],
      "hgvs": [
        "NG_008434.1:g.275576del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2909,
          "referenceAllele": "C",
          "start": 2908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.2628del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Ser877AlafsTer13",
        "hgvsWellDefined": "ENSP00000379258.3:p.[Ser877_Glu878del;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser903delinsGly;Ser906Thr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.2628del"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.2628del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Ser877AlafsTer13"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Ser877AlafsTer13"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2585,
          "referenceAllele": "C",
          "start": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.2454del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Ser819AlafsTer13",
        "hgvsWellDefined": "ENSP00000503986.1:p.[Ser819_Glu820del;Ser822_Gly826delinsArgArgHis;Gln829_Val833delinsArg;Asp835_Ser845delinsGly;Ser848Thr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2727,
          "referenceAllele": "C",
          "start": 2726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.2628del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Ser877AlafsTer13",
        "hgvsWellDefined": "ENSP00000503743.1:p.[Ser877_Glu878del;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser903delinsGly;Ser906Thr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2741,
          "referenceAllele": "C",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.2628del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Ser877AlafsTer13",
        "hgvsWellDefined": "ENSP00000502957.1:p.[Ser877_Glu878del;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser903delinsGly;Ser906Thr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2713,
          "referenceAllele": "C",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.2628del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Ser877AlafsTer13",
        "hgvsWellDefined": "ENSP00000379258.3:p.[Ser877_Glu878del;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser903delinsGly;Ser906Thr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2605,
          "referenceAllele": "C",
          "start": 2604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.2605del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2719,
          "referenceAllele": "C",
          "start": 2718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.2628del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Ser877AlafsTer13",
        "hgvsWellDefined": "NP_000159.3:p.[Ser877_Glu878del;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser903delinsGly;Ser906Thr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2757,
          "referenceAllele": "C",
          "start": 2756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.2628del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Ser877AlafsTer13",
        "hgvsWellDefined": "XP_005249760.1:p.[Ser877_Glu878del;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser903delinsGly;Ser906Thr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2946,
          "referenceAllele": "C",
          "start": 2945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.2628del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Ser877AlafsTer13",
        "hgvsWellDefined": "XP_005249761.1:p.[Ser877_Glu878del;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser903delinsGly;Ser906Thr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2736,
          "referenceAllele": "C",
          "start": 2735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.2628del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Ser877AlafsTer13",
        "hgvsWellDefined": "XP_011513574.1:p.[Ser877_Glu878del;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser903delinsGly;Ser906Thr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2789,
          "referenceAllele": "C",
          "start": 2788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.2628del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Ser877AlafsTer13",
        "hgvsWellDefined": "XP_011513575.1:p.[Ser877_Glu878del;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser903delinsGly;Ser906Thr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2605,
          "referenceAllele": "C",
          "start": 2604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.2451del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Ser818AlafsTer13",
        "hgvsWellDefined": "XP_011513576.1:p.[Ser818_Glu819del;Ser821_Gly825delinsArgArgHis;Gln828_Val832delinsArg;Asp834_Ser844delinsGly;Ser847Thr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5343,
          "referenceAllele": "C",
          "start": 5342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.2451del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Ser818AlafsTer13",
        "hgvsWellDefined": "XP_011513576.1:p.[Ser818_Glu819del;Ser821_Gly825delinsArgArgHis;Gln828_Val832delinsArg;Asp834_Ser844delinsGly;Ser847Thr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5376,
          "referenceAllele": "C",
          "start": 5375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.2625del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Ser876AlafsTer13",
        "hgvsWellDefined": "XP_016867486.1:p.[Ser876_Glu877del;Ser879_Gly883delinsArgArgHis;Gln886_Val890delinsArg;Asp892_Ser902delinsGly;Ser905Thr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2909,
          "referenceAllele": "C",
          "start": 2908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.2628del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Ser877AlafsTer13",
        "hgvsWellDefined": "NP_000159.3:p.[Ser877_Glu878del;Ser880_Gly884delinsArgArgHis;Gln887_Val891delinsArg;Asp893_Ser903delinsGly;Ser906Thr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.2628del"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.2628del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Ser877AlafsTer13"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Ser877AlafsTer13"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}