{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA270026",
  "communityStandardTitle": [
    "NM_000539.3(RHO):c.979_982del (p.Pro327TrpfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=152801[alleleid]",
        "alleleId": 152801,
        "preferredName": "NM_000539.3(RHO):c.979_982del (p.Pro327fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143083",
        "RCV": [
          "RCV000132602"
        ],
        "variationId": 143083
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.129252491_129252494del?assembly=hg19",
        "id": "chr3:g.129252491_129252494del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.129533648_129533651del?assembly=hg38",
        "id": "chr3:g.129533648_129533651del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/527236102",
        "rs": 527236102
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 129533653,
          "referenceAllele": "CCAC",
          "start": 129533649
        }
      ],
      "hgvs": [
        "NC_000003.12:g.129533650_129533653del",
        "CM000665.2:g.129533650_129533653del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 129252496,
          "referenceAllele": "CCAC",
          "start": 129252492
        }
      ],
      "hgvs": [
        "NC_000003.11:g.129252493_129252496del",
        "CM000665.1:g.129252493_129252496del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 130735186,
          "referenceAllele": "CCAC",
          "start": 130735182
        }
      ],
      "hgvs": [
        "NC_000003.10:g.130735183_130735186del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 10015,
          "referenceAllele": "CCAC",
          "start": 10011
        }
      ],
      "hgvs": [
        "NG_009115.1:g.10012_10015del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001449"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1077,
          "referenceAllele": "CCAC",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010012",
      "geneNCBI_id": 6010,
      "geneSymbol": "RHO",
      "hgvs": [
        "ENST00000296271.4:c.979_982del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296271.3:p.Pro327TrpfsTer?",
        "hgvsWellDefined": "ENSP00000296271.3:p.[Asn326_Pro327insTrpValThrMetArg;Gly329_Ser334delinsLeuProCysProArgArgArgArg;Thr336_Glu341delinsArgTrpProArgProLys;Ser343_Ala348delinsCysLeuGlyLeuCysGlyArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296271.4:c.979_982del"
          },
          "RefSeq": {
            "hgvs": "NM_000539.3:c.979_982del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296271.3:p.Pro327TrpfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000530.1:p.Pro327TrpfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1076,
          "referenceAllele": "CCAC",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010012",
      "geneNCBI_id": 6010,
      "geneSymbol": "RHO",
      "hgvs": [
        "ENST00000296271.3:c.979_982del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296271.3:p.Pro327TrpfsTer?",
        "hgvsWellDefined": "ENSP00000296271.3:p.[Asn326_Pro327insTrpValThrMetArg;Gly329_Ser334delinsLeuProCysProArgArgArgArg;Thr336_Glu341delinsArgTrpProArgProLys;Ser343_Ala348delinsCysLeuGlyLeuCysGlyArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254265"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1077,
          "referenceAllele": "CCAC",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010012",
      "geneNCBI_id": 6010,
      "geneSymbol": "RHO",
      "hgvs": [
        "NM_000539.3:c.979_982del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000530.1:p.Pro327TrpfsTer?",
        "hgvsWellDefined": "NP_000530.1:p.[Asn326_Pro327insTrpValThrMetArg;Gly329_Ser334delinsLeuProCysProArgArgArgArg;Thr336_Glu341delinsArgTrpProArgProLys;Ser343_Ala348delinsCysLeuGlyLeuCysGlyArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006597",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296271.4:c.979_982del"
          },
          "RefSeq": {
            "hgvs": "NM_000539.3:c.979_982del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296271.3:p.Pro327TrpfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000530.1:p.Pro327TrpfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}