{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041199",
  "communityStandardTitle": [
    "NM_019098.5(CNGB3):c.163dup (p.Thr55AsnfsTer9)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357654[alleleid]",
        "alleleId": 357654,
        "preferredName": "NM_019098.5(CNGB3):c.163dup (p.Thr55fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370806",
        "RCV": [
          "RCV000409138"
        ],
        "variationId": 370806
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.87751931dupT?assembly=hg19",
        "id": "chr8:g.87751931dupT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.87751930_87751931insT?assembly=hg19",
        "id": "chr8:g.87751930_87751931insT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.86739703dupT?assembly=hg38",
        "id": "chr8:g.86739703dupT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.86739702_86739703insT?assembly=hg38",
        "id": "chr8:g.86739702_86739703insT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516782",
        "rs": 1057516782
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 86739706,
          "referenceAllele": "",
          "start": 86739706
        }
      ],
      "hgvs": [
        "NC_000008.11:g.86739706dup",
        "CM000670.2:g.86739706dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 87751934,
          "referenceAllele": "",
          "start": 87751934
        }
      ],
      "hgvs": [
        "NC_000008.10:g.87751934dup",
        "CM000670.1:g.87751934dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 87821050,
          "referenceAllele": "",
          "start": 87821050
        }
      ],
      "hgvs": [
        "NC_000008.9:g.87821050dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8973,
          "referenceAllele": "",
          "start": 8973
        }
      ],
      "hgvs": [
        "NG_016980.1:g.8973dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003348"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 170,
          "referenceAllele": "",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000320005.6:c.163dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316605.5:p.Thr55AsnfsTer9",
        "hgvsWellDefined": "ENSP00000316605.5:p.[Thr55_Thr67del;Ile69del;Asp71_Lys76delinsVal;Gly80_Thr84delinsHisVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320005.6:c.163dup"
          },
          "RefSeq": {
            "hgvs": "NM_019098.5:c.163dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316605.5:p.Thr55AsnfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_061971.3:p.Thr55AsnfsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 211,
          "referenceAllele": "",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000681746.1:c.163dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505959.1:p.Thr55AsnfsTer9",
        "hgvsWellDefined": "ENSP00000505959.1:p.[Thr55_Thr67del;Ile69del;Asp71_Lys76delinsVal;Gly80_Thr84delinsHisVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 211,
          "referenceAllele": "",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000320005.5:c.163dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316605.5:p.Thr55AsnfsTer9",
        "hgvsWellDefined": "ENSP00000316605.5:p.[Thr55_Thr67del;Ile69del;Asp71_Lys76delinsVal;Gly80_Thr84delinsHisVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 145,
          "referenceAllele": "",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000519777.1:n.145dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 211,
          "referenceAllele": "",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "NM_019098.4:c.163dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_061971.3:p.Thr55AsnfsTer9",
        "hgvsWellDefined": "NP_061971.3:p.[Thr55_Thr67del;Ile69del;Asp71_Lys76delinsVal;Gly80_Thr84delinsHisVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 170,
          "referenceAllele": "",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "NM_019098.5:c.163dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_061971.3:p.Thr55AsnfsTer9",
        "hgvsWellDefined": "NP_061971.3:p.[Thr55_Thr67del;Ile69del;Asp71_Lys76delinsVal;Gly80_Thr84delinsHisVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728397",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320005.6:c.163dup"
          },
          "RefSeq": {
            "hgvs": "NM_019098.5:c.163dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316605.5:p.Thr55AsnfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_061971.3:p.Thr55AsnfsTer9"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}