{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA286384323",
  "communityStandardTitle": [
    "NM_001367624.2(ZNF469):c.8625_8627delinsACG (p.His2876Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1251560[alleleid]",
        "alleleId": 1251560,
        "preferredName": "NM_001367624.2(ZNF469):c.8625_8627delinsACG (p.His2876Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1261653",
        "RCV": [
          "RCV001674231",
          "RCV002449395",
          "RCV002506721"
        ],
        "variationId": 1261653
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386794006",
        "rs": 386794006
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "ACG",
          "end": 88436097,
          "referenceAllele": "GCA",
          "start": 88436094
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88436095_88436097delinsACG",
        "CM000678.2:g.88436095_88436097delinsACG"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "ACG",
          "end": 88502505,
          "referenceAllele": "GCA",
          "start": 88502502
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88502503_88502505delinsACG",
        "CM000678.1:g.88502503_88502505delinsACG"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "ACG",
          "end": 87030006,
          "referenceAllele": "GCA",
          "start": 87030003
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87030004_87030006delinsACG"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "ACG",
          "end": 13627,
          "referenceAllele": "GCA",
          "start": 13624
        }
      ],
      "hgvs": [
        "NG_012236.2:g.13625_13627delinsACG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002308"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "ACG",
          "end": 9114,
          "referenceAllele": "GCA",
          "start": 9111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "ENST00000565624.3:c.8625_8627delinsACG"
      ],
      "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.8625_8627delinsACG"
          },
          "RefSeq": {
            "hgvs": "NM_001367624.2:c.8625_8627delinsACG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000456500.2:p.His2876Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001354553.1:p.His2876Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "ACG",
          "end": 8543,
          "referenceAllele": "GCA",
          "start": 8540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "ENST00000437464.1:c.8541_8543delinsACG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402343.1:p.His2848Arg",
        "hgvsWellDefined": "ENSP00000402343.1:p.His2848Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294477"
    },
    {
      "coordinates": [
        {
          "allele": "ACG",
          "end": 8627,
          "referenceAllele": "GCA",
          "start": 8624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "ENST00000565624.1:c.8625_8627delinsACG"
      ],
      "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": "ACG",
          "end": 8543,
          "referenceAllele": "GCA",
          "start": 8540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "NM_001127464.2:c.8541_8543delinsACG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120936.2:p.His2848Arg",
        "hgvsWellDefined": "NP_001120936.2:p.His2848Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011623"
    },
    {
      "coordinates": [
        {
          "allele": "ACG",
          "end": 9080,
          "referenceAllele": "GCA",
          "start": 9077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "XM_011523386.1:c.8625_8627delinsACG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521688.1:p.His2876Arg",
        "hgvsWellDefined": "XP_011521688.1:p.His2876Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090524"
    },
    {
      "coordinates": [
        {
          "allele": "ACG",
          "end": 8996,
          "referenceAllele": "GCA",
          "start": 8993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "XM_011523387.1:c.8625_8627delinsACG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521689.1:p.His2876Arg",
        "hgvsWellDefined": "XP_011521689.1:p.His2876Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090525"
    },
    {
      "coordinates": [
        {
          "allele": "ACG",
          "end": 8836,
          "referenceAllele": "GCA",
          "start": 8833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "XM_011523388.1:c.8625_8627delinsACG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521690.1:p.His2876Arg",
        "hgvsWellDefined": "XP_011521690.1:p.His2876Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090526"
    },
    {
      "coordinates": [
        {
          "allele": "ACG",
          "end": 9777,
          "referenceAllele": "GCA",
          "start": 9774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "XM_017023784.1:c.8625_8627delinsACG"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879273.1:p.His2876Arg",
        "hgvsWellDefined": "XP_016879273.1:p.His2876Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574468"
    },
    {
      "coordinates": [
        {
          "allele": "ACG",
          "end": 8820,
          "referenceAllele": "GCA",
          "start": 8817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "XM_017023785.1:c.8625_8627delinsACG"
      ],
      "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": "ACG",
          "end": 8627,
          "referenceAllele": "GCA",
          "start": 8624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "NM_001367624.1:c.8625_8627delinsACG"
      ],
      "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": "ACG",
          "end": 9114,
          "referenceAllele": "GCA",
          "start": 9111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "NM_001367624.2:c.8625_8627delinsACG"
      ],
      "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.8625_8627delinsACG"
          },
          "RefSeq": {
            "hgvs": "NM_001367624.2:c.8625_8627delinsACG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000456500.2:p.His2876Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001354553.1:p.His2876Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}