{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6508289",
  "communityStandardTitle": [
    "NM_001005242.3(PKP2):c.2066_2070del (p.His689ProfsTer8)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=676917[alleleid]",
        "alleleId": 676917,
        "preferredName": "NM_001005242.3(PKP2):c.2066_2070del (p.His689fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/689321",
        "RCV": [
          "RCV000850014",
          "RCV001559727",
          "RCV004017755"
        ],
        "variationId": 689321
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-32955433-GGGTGT-G",
        "id": "12-32955433-GGGTGT-G",
        "variant": "12:32955433 GGGTGT / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.32955434_32955438del?assembly=hg19",
        "id": "chr12:g.32955434_32955438del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.32802500_32802504del?assembly=hg38",
        "id": "chr12:g.32802500_32802504del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397517021",
        "rs": 397517021
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-32955433-GGGTGT-G?dataset=gnomad_r2_1",
        "id": "12-32955433-GGGTGT-G",
        "variant": "12:32955433 GGGTGT / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-32802499-GGGTGT-G?dataset=gnomad_r3",
        "id": "12-32802499-GGGTGT-G",
        "variant": "12:32802499 GGGTGT / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-32802499-GGGTGT-G?dataset=gnomad_r4",
        "id": "12-32802499-GGGTGT-G",
        "variant": "12:32802499 GGGTGT / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 32802505,
          "referenceAllele": "GTGTG",
          "start": 32802500
        }
      ],
      "hgvs": [
        "NC_000012.12:g.32802501_32802505del",
        "CM000674.2:g.32802501_32802505del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 32955439,
          "referenceAllele": "GTGTG",
          "start": 32955434
        }
      ],
      "hgvs": [
        "NC_000012.11:g.32955435_32955439del",
        "CM000674.1:g.32955435_32955439del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 32846706,
          "referenceAllele": "GTGTG",
          "start": 32846701
        }
      ],
      "hgvs": [
        "NC_000012.10:g.32846702_32846706del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 99347,
          "referenceAllele": "CACCA",
          "start": 99342
        }
      ],
      "hgvs": [
        "NG_009000.1:g.99343_99347del",
        "LRG_398:g.99343_99347del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001371"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 573,
          "referenceAllele": "CACCA",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700555.2:n.569_573del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914480"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 162,
          "referenceAllele": "CACCA",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700557.2:n.158_162del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914481"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2137,
          "referenceAllele": "CACCA",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700559.2:c.2066_2070del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515065.2:p.His689ProfsTer8",
        "hgvsWellDefined": "ENSP00000515065.2:p.[His689_Arg691delinsPro;Met693_Gly697del;Pro699_Thr704delinsAla;Ile706_Asn720delinsCysTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914482"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 757,
          "referenceAllele": "CACCA",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000546498.2:n.753_757del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905812"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 609,
          "referenceAllele": "CACCA",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000549461.2:n.605_609del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905827"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 573,
          "referenceAllele": "CACCA",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700555.1:c.497_501del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515062.1:p.His166ProfsTer8",
        "hgvsWellDefined": "ENSP00000515062.1:p.[His166_Arg168delinsPro;Met170_Gly174del;Pro176_Thr181delinsAla;Ile183_Asn197delinsCysTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911303"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 541,
          "referenceAllele": "CACCA",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700556.1:c.537_541del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911304"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 162,
          "referenceAllele": "CACCA",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700557.1:c.77_81del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515064.1:p.His26ProfsTer8",
        "hgvsWellDefined": "ENSP00000515064.1:p.[His26_Arg28delinsPro;Met30_Gly34del;Pro36_Thr41delinsAla;Ile43_Asn57delinsCysTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 284,
          "referenceAllele": "CACCA",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700558.1:n.280_284del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911306"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1285,
          "referenceAllele": "CACCA",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700559.1:c.1281_1285del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911307"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1285,
          "referenceAllele": "CACCA",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700560.1:n.1281_1285del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911308"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1411,
          "referenceAllele": "CACCA",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000700561.1:n.1407_1411del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911309"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2248,
          "referenceAllele": "CACCA",
          "start": 2243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000070846.11:c.2198_2202del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000070846.6:p.His733ProfsTer8",
        "hgvsWellDefined": "ENSP00000070846.6:p.[His733_Arg735delinsPro;Met737_Gly741del;Pro743_Thr748delinsAla;Ile750_Asn764delinsCysTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823539"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2116,
          "referenceAllele": "CACCA",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000340811.9:c.2066_2070del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342800.5:p.His689ProfsTer8",
        "hgvsWellDefined": "ENSP00000342800.5:p.[His689_Arg691delinsPro;Met693_Gly697del;Pro699_Thr704delinsAla;Ile706_Asn720delinsCysTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747932",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340811.9:c.2066_2070del"
          },
          "RefSeq": {
            "hgvs": "NM_001005242.3:c.2066_2070del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342800.5:p.His689ProfsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_001005242.2:p.His689ProfsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2227,
          "referenceAllele": "CACCA",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000070846.10:c.2198_2202del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000070846.6:p.His733ProfsTer8",
        "hgvsWellDefined": "ENSP00000070846.6:p.[His733_Arg735delinsPro;Met737_Gly741del;Pro743_Thr748delinsAla;Ile750_Asn764delinsCysTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247414"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2179,
          "referenceAllele": "CACCA",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000340811.8:c.2066_2070del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342800.4:p.His689ProfsTer8",
        "hgvsWellDefined": "ENSP00000342800.4:p.[His689_Arg691delinsPro;Met693_Gly697del;Pro699_Thr704delinsAla;Ile706_Asn720delinsCysTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247364"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 516,
          "referenceAllele": "CACCA",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000549461.1:n.512_516del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367476"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2202,
          "referenceAllele": "CACCA",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "ENST00000613243.1:c.2198_2202del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478295.1:p.His733ProfsTer8",
        "hgvsWellDefined": "ENSP00000478295.1:p.[His733_Arg735delinsPro;Met737_Gly741del;Pro743_Thr748delinsAla;Ile750_Asn764delinsCysTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401661"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2185,
          "referenceAllele": "CACCA",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "NM_001005242.2:c.2066_2070del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005242.2:p.His689ProfsTer8",
        "hgvsWellDefined": "NP_001005242.2:p.[His689_Arg691delinsPro;Met693_Gly697del;Pro699_Thr704delinsAla;Ile706_Asn720delinsCysTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007648"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2317,
          "referenceAllele": "CACCA",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "NM_004572.3:c.2198_2202del",
        "LRG_398t1:c.2198_2202del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004563.2:p.His733ProfsTer8",
        "hgvsWellDefined": "NP_004563.2:p.[His733_Arg735delinsPro;Met737_Gly741del;Pro743_Thr748delinsAla;Ile750_Asn764delinsCysTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029728"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2116,
          "referenceAllele": "CACCA",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "NM_001005242.3:c.2066_2070del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005242.2:p.His689ProfsTer8",
        "hgvsWellDefined": "NP_001005242.2:p.[His689_Arg691delinsPro;Met693_Gly697del;Pro699_Thr704delinsAla;Ile706_Asn720delinsCysTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675174",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340811.9:c.2066_2070del"
          },
          "RefSeq": {
            "hgvs": "NM_001005242.3:c.2066_2070del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342800.5:p.His689ProfsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_001005242.2:p.His689ProfsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2248,
          "referenceAllele": "CACCA",
          "start": 2243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009024",
      "geneNCBI_id": 5318,
      "geneSymbol": "PKP2",
      "hgvs": [
        "NM_004572.4:c.2198_2202del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004563.2:p.His733ProfsTer8",
        "hgvsWellDefined": "NP_004563.2:p.[His733_Arg735delinsPro;Met737_Gly741del;Pro743_Thr748delinsAla;Ile750_Asn764delinsCysTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727517"
    }
  ],
  "type": "nucleotide"
}