{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2740093451",
  "communityStandardTitle": [
    "NM_001367624.2(ZNF469):c.8627_8628delinsGC (p.His2876Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3158571[alleleid]",
        "alleleId": 3158571,
        "preferredName": "NM_001367624.2(ZNF469):c.8627_8628delinsGC (p.His2876Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3007274",
        "RCV": [
          "RCV003868913"
        ],
        "variationId": 3007274
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2507600320",
        "rs": 2507600320
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "GC",
          "end": 88436098,
          "referenceAllele": "AT",
          "start": 88436096
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88436097_88436098delinsGC",
        "CM000678.2:g.88436097_88436098delinsGC"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "GC",
          "end": 88502506,
          "referenceAllele": "AT",
          "start": 88502504
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88502505_88502506delinsGC",
        "CM000678.1:g.88502505_88502506delinsGC"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "GC",
          "end": 87030007,
          "referenceAllele": "AT",
          "start": 87030005
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87030006_87030007delinsGC"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 13628,
          "referenceAllele": "AT",
          "start": 13626
        }
      ],
      "hgvs": [
        "NG_012236.2:g.13627_13628delinsGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002308"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 9115,
          "referenceAllele": "AT",
          "start": 9113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "ENST00000565624.3:c.8627_8628delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456500.2:p.His2876Arg",
        "hgvsWellDefined": "ENSP00000456500.2:p.His2876Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760473",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000565624.3:c.8627_8628delinsGC"
          },
          "RefSeq": {
            "hgvs": "NM_001367624.2:c.8627_8628delinsGC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000456500.2:p.His2876Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001354553.1:p.His2876Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 8544,
          "referenceAllele": "AT",
          "start": 8542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "ENST00000437464.1:c.8543_8544delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402343.1:p.His2848Arg",
        "hgvsWellDefined": "ENSP00000402343.1:p.His2848Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294477"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 8628,
          "referenceAllele": "AT",
          "start": 8626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "ENST00000565624.1:c.8627_8628delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456500.1:p.His2876Arg",
        "hgvsWellDefined": "ENSP00000456500.1:p.His2876Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA201583",
      "coordinates": [
        {
          "allele": "GC",
          "end": 8544,
          "referenceAllele": "AT",
          "start": 8542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "NM_001127464.2:c.8543_8544delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120936.2:p.His2848Arg",
        "hgvsWellDefined": "NP_001120936.2:p.His2848Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011623"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 9081,
          "referenceAllele": "AT",
          "start": 9079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "XM_011523386.1:c.8627_8628delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521688.1:p.His2876Arg",
        "hgvsWellDefined": "XP_011521688.1:p.His2876Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090524"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 8997,
          "referenceAllele": "AT",
          "start": 8995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "XM_011523387.1:c.8627_8628delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521689.1:p.His2876Arg",
        "hgvsWellDefined": "XP_011521689.1:p.His2876Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090525"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 8837,
          "referenceAllele": "AT",
          "start": 8835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "XM_011523388.1:c.8627_8628delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521690.1:p.His2876Arg",
        "hgvsWellDefined": "XP_011521690.1:p.His2876Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090526"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 9778,
          "referenceAllele": "AT",
          "start": 9776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "XM_017023784.1:c.8627_8628delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879273.1:p.His2876Arg",
        "hgvsWellDefined": "XP_016879273.1:p.His2876Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574468"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 8821,
          "referenceAllele": "AT",
          "start": 8819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "XM_017023785.1:c.8627_8628delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879274.1:p.His2876Arg",
        "hgvsWellDefined": "XP_016879274.1:p.His2876Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916046760",
      "coordinates": [
        {
          "allele": "GC",
          "end": 8628,
          "referenceAllele": "AT",
          "start": 8626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "NM_001367624.1:c.8627_8628delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354553.1:p.His2876Arg",
        "hgvsWellDefined": "NP_001354553.1:p.His2876Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916046760",
      "coordinates": [
        {
          "allele": "GC",
          "end": 9115,
          "referenceAllele": "AT",
          "start": 9113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "NM_001367624.2:c.8627_8628delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354553.1:p.His2876Arg",
        "hgvsWellDefined": "NP_001354553.1:p.His2876Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691279",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000565624.3:c.8627_8628delinsGC"
          },
          "RefSeq": {
            "hgvs": "NM_001367624.2:c.8627_8628delinsGC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000456500.2:p.His2876Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001354553.1:p.His2876Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}