{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2182690",
  "communityStandardTitle": [
    "NM_024080.5(TRPM8):c.2422dup (p.Tyr808LeufsTer14)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-234888892-C-CT",
        "id": "2-234888892-C-CT",
        "variant": "2:234888892 C / CT"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.234888892_234888893insT?assembly=hg19",
        "id": "chr2:g.234888892_234888893insT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.233980248_233980249insT?assembly=hg38",
        "id": "chr2:g.233980248_233980249insT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/761976363",
        "rs": 761976363
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-234888892-C-CT?dataset=gnomad_r2_1",
        "id": "2-234888892-C-CT",
        "variant": "2:234888892 C / CT"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-233980248-C-CT?dataset=gnomad_r3",
        "id": "2-233980248-C-CT",
        "variant": "2:233980248 C / CT"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-233980248-C-CT?dataset=gnomad_r4",
        "id": "2-233980248-C-CT",
        "variant": "2:233980248 C / CT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 233980254,
          "referenceAllele": "",
          "start": 233980254
        }
      ],
      "hgvs": [
        "NC_000002.12:g.233980254dup",
        "CM000664.2:g.233980254dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 234888898,
          "referenceAllele": "",
          "start": 234888898
        }
      ],
      "hgvs": [
        "NC_000002.11:g.234888898dup",
        "CM000664.1:g.234888898dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 234553637,
          "referenceAllele": "",
          "start": 234553637
        }
      ],
      "hgvs": [
        "NC_000002.10:g.234553637dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2487,
          "referenceAllele": "",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "ENST00000324695.9:c.2422dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323926.4:p.Tyr808LeufsTer14",
        "hgvsWellDefined": "ENSP00000323926.4:p.[Tyr808_Arg816delinsLeu;Ser820Arg;Lys822_Ser823delinsCysIle;Leu825_Ile831delinsAlaProLeu;Cys833_Ile837del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324695.9:c.2422dup"
          },
          "RefSeq": {
            "hgvs": "NM_024080.5:c.2422dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323926.4:p.Tyr808LeufsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_076985.4:p.Tyr808LeufsTer14"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2462,
          "referenceAllele": "",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "ENST00000324695.8:c.2422dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323926.4:p.Tyr808LeufsTer14",
        "hgvsWellDefined": "ENSP00000323926.4:p.[Tyr808_Arg816delinsLeu;Ser820Arg;Lys822_Ser823delinsCysIle;Leu825_Ile831delinsAlaProLeu;Cys833_Ile837del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2132,
          "referenceAllele": "",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "ENST00000433712.6:c.1369dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404423.3:p.Tyr457LeufsTer14",
        "hgvsWellDefined": "ENSP00000404423.3:p.[Tyr457_Arg465delinsLeu;Ser469Arg;Lys471_Ser472delinsCysIle;Leu474_Ile480delinsAlaProLeu;Cys482_Ile486del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2382,
          "referenceAllele": "",
          "start": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "ENST00000444298.5:c.*1371dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396745.1:n.*1371dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 205,
          "referenceAllele": "",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "ENST00000456930.1:c.205dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414198.1:p.Tyr69LeufsTer14",
        "hgvsWellDefined": "ENSP00000414198.1:p.[Tyr69_Arg77delinsLeu;Ser81Arg;Lys83_Ser84delinsCysIle;Leu86_Ile92delinsAlaProLeu;Cys94_Ile98del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 126,
          "endIntronDirection": "-",
          "endIntronOffset": 2798,
          "referenceAllele": "",
          "start": 126,
          "startIntronDirection": "-",
          "startIntronOffset": 2798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "ENST00000475044.5:n.127-2799dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 133,
          "referenceAllele": "",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "ENST00000477103.1:n.133dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2462,
          "referenceAllele": "",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_024080.4:c.2422dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_076985.4:p.Tyr808LeufsTer14",
        "hgvsWellDefined": "NP_076985.4:p.[Tyr808_Arg816delinsLeu;Ser820Arg;Lys822_Ser823delinsCysIle;Leu825_Ile831delinsAlaProLeu;Cys833_Ile837del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037664"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2498,
          "referenceAllele": "",
          "start": 2498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "XM_011511810.1:c.2422dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510112.1:p.Tyr808LeufsTer14",
        "hgvsWellDefined": "XP_011510112.1:p.[Tyr808_Arg816delinsLeu;Ser820Arg;Lys822_Ser823delinsCysIle;Leu825_Ile831delinsAlaProLeu;Cys833_Ile837del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2518,
          "referenceAllele": "",
          "start": 2518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "XM_011511810.2:c.2422dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510112.1:p.Tyr808LeufsTer14",
        "hgvsWellDefined": "XP_011510112.1:p.[Tyr808_Arg816delinsLeu;Ser820Arg;Lys822_Ser823delinsCysIle;Leu825_Ile831delinsAlaProLeu;Cys833_Ile837del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4329,
          "referenceAllele": "",
          "start": 4329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "XM_017004891.1:c.2191dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860380.1:p.Tyr731LeufsTer14",
        "hgvsWellDefined": "XP_016860380.1:p.[Tyr731_Arg739delinsLeu;Ser743Arg;Lys745_Ser746delinsCysIle;Leu748_Ile754delinsAlaProLeu;Cys756_Ile760del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3442,
          "referenceAllele": "",
          "start": 3442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "XM_024453132.1:c.2191dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308900.1:p.Tyr731LeufsTer14",
        "hgvsWellDefined": "XP_024308900.1:p.[Tyr731_Arg739delinsLeu;Ser743Arg;Lys745_Ser746delinsCysIle;Leu748_Ile754delinsAlaProLeu;Cys756_Ile760del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1466,
          "referenceAllele": "",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "XM_024453133.1:c.1237dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308901.1:p.Tyr413LeufsTer14",
        "hgvsWellDefined": "XP_024308901.1:p.[Tyr413_Arg421delinsLeu;Ser425Arg;Lys427_Ser428delinsCysIle;Leu430_Ile436delinsAlaProLeu;Cys438_Ile442del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1465,
          "referenceAllele": "",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "XM_024453134.1:c.1237dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308902.1:p.Tyr413LeufsTer14",
        "hgvsWellDefined": "XP_024308902.1:p.[Tyr413_Arg421delinsLeu;Ser425Arg;Lys427_Ser428delinsCysIle;Leu430_Ile436delinsAlaProLeu;Cys438_Ile442del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2487,
          "referenceAllele": "",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_024080.5:c.2422dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_076985.4:p.Tyr808LeufsTer14",
        "hgvsWellDefined": "NP_076985.4:p.[Tyr808_Arg816delinsLeu;Ser820Arg;Lys822_Ser823delinsCysIle;Leu825_Ile831delinsAlaProLeu;Cys833_Ile837del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670595",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324695.9:c.2422dup"
          },
          "RefSeq": {
            "hgvs": "NM_024080.5:c.2422dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323926.4:p.Tyr808LeufsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_076985.4:p.Tyr808LeufsTer14"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2487,
          "referenceAllele": "",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_001397606.1:c.2422dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001384535.1:p.Tyr808LeufsTer14",
        "hgvsWellDefined": "NP_001384535.1:p.[Tyr808_Arg816delinsLeu;Ser820Arg;Lys822_Ser823delinsCysIle;Leu825_Ile831delinsAlaProLeu;Cys833_Ile837del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2419,
          "referenceAllele": "",
          "start": 2419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_001397607.1:c.2272dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001384536.1:p.Tyr758LeufsTer14",
        "hgvsWellDefined": "NP_001384536.1:p.[Tyr758_Arg766delinsLeu;Ser770Arg;Lys772_Ser773delinsCysIle;Leu775_Ile781delinsAlaProLeu;Cys783_Ile787del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2487,
          "referenceAllele": "",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_001397608.1:c.2422dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001384537.1:p.Tyr808LeufsTer14",
        "hgvsWellDefined": "NP_001384537.1:p.[Tyr808_Arg816delinsLeu;Ser820Arg;Lys822_Ser823delinsCysIle;Leu825_Ile831delinsAlaProLeu;Cys833_Ile837del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2373,
          "referenceAllele": "",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_001397609.1:c.2191dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001384538.1:p.Tyr731LeufsTer14",
        "hgvsWellDefined": "NP_001384538.1:p.[Tyr731_Arg739delinsLeu;Ser743Arg;Lys745_Ser746delinsCysIle;Leu748_Ile754delinsAlaProLeu;Cys756_Ile760del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3158,
          "referenceAllele": "",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_001397610.1:c.2191dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001384539.1:p.Tyr731LeufsTer14",
        "hgvsWellDefined": "NP_001384539.1:p.[Tyr731_Arg739delinsLeu;Ser743Arg;Lys745_Ser746delinsCysIle;Leu748_Ile754delinsAlaProLeu;Cys756_Ile760del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2483,
          "referenceAllele": "",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_001397611.1:c.2191dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001384540.1:p.Tyr731LeufsTer14",
        "hgvsWellDefined": "NP_001384540.1:p.[Tyr731_Arg739delinsLeu;Ser743Arg;Lys745_Ser746delinsCysIle;Leu748_Ile754delinsAlaProLeu;Cys756_Ile760del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3158,
          "referenceAllele": "",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_001397612.1:c.2191dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001384541.1:p.Tyr731LeufsTer14",
        "hgvsWellDefined": "NP_001384541.1:p.[Tyr731_Arg739delinsLeu;Ser743Arg;Lys745_Ser746delinsCysIle;Leu748_Ile754delinsAlaProLeu;Cys756_Ile760del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2373,
          "referenceAllele": "",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_001397613.1:c.2191dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001384542.1:p.Tyr731LeufsTer14",
        "hgvsWellDefined": "NP_001384542.1:p.[Tyr731_Arg739delinsLeu;Ser743Arg;Lys745_Ser746delinsCysIle;Leu748_Ile754delinsAlaProLeu;Cys756_Ile760del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1349,
          "referenceAllele": "",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_001397614.1:c.1237dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001384543.1:p.Tyr413LeufsTer14",
        "hgvsWellDefined": "NP_001384543.1:p.[Tyr413_Arg421delinsLeu;Ser425Arg;Lys427_Ser428delinsCysIle;Leu430_Ile436delinsAlaProLeu;Cys438_Ile442del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2983,
          "referenceAllele": "",
          "start": 2983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_001397615.1:c.1237dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001384544.1:p.Tyr413LeufsTer14",
        "hgvsWellDefined": "NP_001384544.1:p.[Tyr413_Arg421delinsLeu;Ser425Arg;Lys427_Ser428delinsCysIle;Leu430_Ile436delinsAlaProLeu;Cys438_Ile442del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 158,
          "referenceAllele": "",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_001397617.1:c.22dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001384546.1:p.Tyr8LeufsTer14",
        "hgvsWellDefined": "NP_001384546.1:p.[Tyr8_Arg16delinsLeu;Ser20Arg;Lys22_Ser23delinsCysIle;Leu25_Ile31delinsAlaProLeu;Cys33_Ile37del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1349,
          "referenceAllele": "",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_001397619.1:c.1237dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001384548.1:p.Tyr413LeufsTer14",
        "hgvsWellDefined": "NP_001384548.1:p.[Tyr413_Arg421delinsLeu;Ser425Arg;Lys427_Ser428delinsCysIle;Leu430_Ile436delinsAlaProLeu;Cys438_Ile442del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 127,
          "referenceAllele": "",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_001397620.1:c.22dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001384549.1:p.Tyr8LeufsTer14",
        "hgvsWellDefined": "NP_001384549.1:p.[Tyr8_Arg16delinsLeu;Ser20Arg;Lys22_Ser23delinsCysIle;Leu25_Ile31delinsAlaProLeu;Cys33_Ile37del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 158,
          "referenceAllele": "",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_001397621.1:c.22dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001384550.1:p.Tyr8LeufsTer14",
        "hgvsWellDefined": "NP_001384550.1:p.[Tyr8_Arg16delinsLeu;Ser20Arg;Lys22_Ser23delinsCysIle;Leu25_Ile31delinsAlaProLeu;Cys33_Ile37del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106,
          "referenceAllele": "",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_001397622.1:c.22dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001384551.1:p.Tyr8LeufsTer14",
        "hgvsWellDefined": "NP_001384551.1:p.[Tyr8_Arg16delinsLeu;Ser20Arg;Lys22_Ser23delinsCysIle;Leu25_Ile31delinsAlaProLeu;Cys33_Ile37del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 158,
          "referenceAllele": "",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_001397623.1:c.22dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001384552.1:p.Tyr8LeufsTer14",
        "hgvsWellDefined": "NP_001384552.1:p.[Tyr8_Arg16delinsLeu;Ser20Arg;Lys22_Ser23delinsCysIle;Leu25_Ile31delinsAlaProLeu;Cys33_Ile37del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106,
          "referenceAllele": "",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_001397624.1:c.22dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001384553.1:p.Tyr8LeufsTer14",
        "hgvsWellDefined": "NP_001384553.1:p.[Tyr8_Arg16delinsLeu;Ser20Arg;Lys22_Ser23delinsCysIle;Leu25_Ile31delinsAlaProLeu;Cys33_Ile37del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 127,
          "referenceAllele": "",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_001397625.1:c.22dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001384554.1:p.Tyr8LeufsTer14",
        "hgvsWellDefined": "NP_001384554.1:p.[Tyr8_Arg16delinsLeu;Ser20Arg;Lys22_Ser23delinsCysIle;Leu25_Ile31delinsAlaProLeu;Cys33_Ile37del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2475,
          "referenceAllele": "",
          "start": 2475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017961",
      "geneNCBI_id": 79054,
      "geneSymbol": "TRPM8",
      "hgvs": [
        "NM_001397635.1:c.1576dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001384564.1:p.Tyr526LeufsTer14",
        "hgvsWellDefined": "NP_001384564.1:p.[Tyr526_Arg534delinsLeu;Ser538Arg;Lys540_Ser541delinsCysIle;Leu543_Ile549delinsAlaProLeu;Cys551_Ile555del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783197"
    }
  ],
  "type": "nucleotide"
}