{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16040596",
  "communityStandardTitle": [
    "NM_005477.3(HCN4):c.1631del (p.Pro544ArgfsTer30)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20213[alleleid]",
        "alleleId": 20213,
        "preferredName": "NM_005477.3(HCN4):c.1631del (p.Pro544fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5174",
        "RCV": [
          "RCV000005482"
        ],
        "variationId": 5174
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.73617745del?assembly=hg19",
        "id": "chr15:g.73617745del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.73325404del?assembly=hg38",
        "id": "chr15:g.73325404del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519015",
        "rs": 1057519015
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 73325406,
          "referenceAllele": "G",
          "start": 73325405
        }
      ],
      "hgvs": [
        "NC_000015.10:g.73325406del",
        "CM000677.2:g.73325406del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 73617747,
          "referenceAllele": "G",
          "start": 73617746
        }
      ],
      "hgvs": [
        "NC_000015.9:g.73617747del",
        "CM000677.1:g.73617747del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 71404800,
          "referenceAllele": "G",
          "start": 71404799
        }
      ],
      "hgvs": [
        "NC_000015.8:g.71404800del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 48861,
          "referenceAllele": "C",
          "start": 48860
        }
      ],
      "hgvs": [
        "NG_009063.1:g.48861del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001405"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2319,
          "referenceAllele": "C",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "ENST00000261917.4:c.1631del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261917.3:p.Pro544ArgfsTer30",
        "hgvsWellDefined": "ENSP00000261917.3:p.[Pro544Arg;Asp546del;Arg548_Leu573delinsProGlySerAlaSerThrThrThrThrSerThrAlaThrArgAlaArgCysSerThrArgArgAlaSerTrpAlaSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261917.4:c.1631del"
          },
          "RefSeq": {
            "hgvs": "NM_005477.3:c.1631del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261917.3:p.Pro544ArgfsTer30"
          },
          "RefSeq": {
            "hgvs": "NP_005468.1:p.Pro544ArgfsTer30"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2625,
          "referenceAllele": "C",
          "start": 2624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "ENST00000261917.3:c.1631del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261917.3:p.Pro544ArgfsTer30",
        "hgvsWellDefined": "ENSP00000261917.3:p.[Pro544Arg;Asp546del;Arg548_Leu573delinsProGlySerAlaSerThrThrThrThrSerThrAlaThrArgAlaArgCysSerThrArgArgAlaSerTrpAlaSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250887"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2625,
          "referenceAllele": "C",
          "start": 2624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "NM_005477.2:c.1631del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005468.1:p.Pro544ArgfsTer30",
        "hgvsWellDefined": "NP_005468.1:p.[Pro544Arg;Asp546del;Arg548_Leu573delinsProGlySerAlaSerThrThrThrThrSerThrAlaThrArgAlaArgCysSerThrArgArgAlaSerTrpAlaSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030570"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 473,
          "referenceAllele": "C",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "XM_011521148.1:c.413del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519450.1:p.Pro138ArgfsTer30",
        "hgvsWellDefined": "XP_011519450.1:p.[Pro138Arg;Asp140del;Arg142_Leu167delinsProGlySerAlaSerThrThrThrThrSerThrAlaThrArgAlaArgCysSerThrArgArgAlaSerTrpAlaSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088312"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 468,
          "referenceAllele": "C",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "XM_011521148.2:c.413del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519450.1:p.Pro138ArgfsTer30",
        "hgvsWellDefined": "XP_011519450.1:p.[Pro138Arg;Asp140del;Arg142_Leu167delinsProGlySerAlaSerThrThrThrThrSerThrAlaThrArgAlaArgCysSerThrArgArgAlaSerTrpAlaSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546007"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2319,
          "referenceAllele": "C",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "NM_005477.3:c.1631del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005468.1:p.Pro544ArgfsTer30",
        "hgvsWellDefined": "NP_005468.1:p.[Pro544Arg;Asp546del;Arg548_Leu573delinsProGlySerAlaSerThrThrThrThrSerThrAlaThrArgAlaArgCysSerThrArgArgAlaSerTrpAlaSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666987",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261917.4:c.1631del"
          },
          "RefSeq": {
            "hgvs": "NM_005477.3:c.1631del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261917.3:p.Pro544ArgfsTer30"
          },
          "RefSeq": {
            "hgvs": "NP_005468.1:p.Pro544ArgfsTer30"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}