{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA006811",
  "communityStandardTitle": [
    "NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=165540[alleleid]",
        "alleleId": 165540,
        "preferredName": "NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/155788",
        "RCV": [
          "RCV000143887",
          "RCV000621781",
          "RCV000824533"
        ],
        "variationId": 155788
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.7583790_7583791delinsAT?assembly=hg19",
        "id": "chr6:g.7583790_7583791delinsAT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.7583557_7583558delinsAT?assembly=hg38",
        "id": "chr6:g.7583557_7583558delinsAT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587782942",
        "rs": 587782942
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "AT",
          "end": 7583558,
          "referenceAllele": "CC",
          "start": 7583556
        }
      ],
      "hgvs": [
        "NC_000006.12:g.7583557_7583558delinsAT",
        "CM000668.2:g.7583557_7583558delinsAT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "AT",
          "end": 7583791,
          "referenceAllele": "CC",
          "start": 7583789
        }
      ],
      "hgvs": [
        "NC_000006.11:g.7583790_7583791delinsAT",
        "CM000668.1:g.7583790_7583791delinsAT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "AT",
          "end": 7528790,
          "referenceAllele": "CC",
          "start": 7528788
        }
      ],
      "hgvs": [
        "NC_000006.10:g.7528789_7528790delinsAT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 46922,
          "referenceAllele": "CC",
          "start": 46920
        }
      ],
      "hgvs": [
        "NG_008803.1:g.46921_46922delinsAT",
        "LRG_423:g.46921_46922delinsAT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001222"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 5545,
          "referenceAllele": "CC",
          "start": 5543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000710359.1:c.4966_4967delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518230.1:p.Pro1656Ile",
        "hgvsWellDefined": "ENSP00000518230.1:p.Pro1656Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914523"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 6541,
          "referenceAllele": "CC",
          "start": 6539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000379802.8:c.6295_6296delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369129.3:p.Pro2099Ile",
        "hgvsWellDefined": "ENSP00000369129.3:p.Pro2099Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752283",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379802.8:c.6295_6296delinsAT"
          },
          "RefSeq": {
            "hgvs": "NM_004415.4:c.6295_6296delinsAT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369129.3:p.Pro2099Ile"
          },
          "RefSeq": {
            "hgvs": "NP_004406.2:p.Pro2099Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 6637,
          "referenceAllele": "CC",
          "start": 6635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000379802.7:c.6295_6296delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369129.3:p.Pro2099Ile",
        "hgvsWellDefined": "ENSP00000369129.3:p.Pro2099Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246640"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 4798,
          "referenceAllele": "CC",
          "start": 4796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000418664.2:c.4498_4499delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396591.2:p.Pro1500Ile",
        "hgvsWellDefined": "ENSP00000396591.2:p.Pro1500Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825296245",
      "coordinates": [
        {
          "allele": "AT",
          "end": 4778,
          "referenceAllele": "CC",
          "start": 4776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.1:c.4498_4499delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:p.Pro1500Ile",
        "hgvsWellDefined": "NP_001008844.1:p.Pro1500Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA345799",
      "coordinates": [
        {
          "allele": "AT",
          "end": 6575,
          "referenceAllele": "CC",
          "start": 6573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.2:c.6295_6296delinsAT",
        "LRG_423t1:c.6295_6296delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Pro2099Ile",
        "hgvsWellDefined": "NP_004406.2:p.Pro2099Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029576"
    },
    {
      "coordinates": [
        {
          "allele": "AT",
          "end": 5308,
          "referenceAllele": "CC",
          "start": 5306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "XM_011514323.1:c.4966_4967delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512625.1:p.Pro1656Ile",
        "hgvsWellDefined": "XP_011512625.1:p.Pro1656Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825296245",
      "coordinates": [
        {
          "allele": "AT",
          "end": 4840,
          "referenceAllele": "CC",
          "start": 4838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.2:c.4498_4499delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:p.Pro1500Ile",
        "hgvsWellDefined": "NP_001008844.1:p.Pro1500Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510980"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827029062",
      "coordinates": [
        {
          "allele": "AT",
          "end": 5308,
          "referenceAllele": "CC",
          "start": 5306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001319034.1:c.4966_4967delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305963.1:p.Pro1656Ile",
        "hgvsWellDefined": "NP_001305963.1:p.Pro1656Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA345799",
      "coordinates": [
        {
          "allele": "AT",
          "end": 6637,
          "referenceAllele": "CC",
          "start": 6635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.3:c.6295_6296delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Pro2099Ile",
        "hgvsWellDefined": "NP_004406.2:p.Pro2099Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA345799",
      "coordinates": [
        {
          "allele": "AT",
          "end": 6541,
          "referenceAllele": "CC",
          "start": 6539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.4:c.6295_6296delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Pro2099Ile",
        "hgvsWellDefined": "NP_004406.2:p.Pro2099Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379802.8:c.6295_6296delinsAT"
          },
          "RefSeq": {
            "hgvs": "NM_004415.4:c.6295_6296delinsAT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369129.3:p.Pro2099Ile"
          },
          "RefSeq": {
            "hgvs": "NP_004406.2:p.Pro2099Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825296245",
      "coordinates": [
        {
          "allele": "AT",
          "end": 4744,
          "referenceAllele": "CC",
          "start": 4742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.3:c.4498_4499delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:p.Pro1500Ile",
        "hgvsWellDefined": "NP_001008844.1:p.Pro1500Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675337"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827029062",
      "coordinates": [
        {
          "allele": "AT",
          "end": 5212,
          "referenceAllele": "CC",
          "start": 5210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001319034.2:c.4966_4967delinsAT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305963.1:p.Pro1656Ile",
        "hgvsWellDefined": "NP_001305963.1:p.Pro1656Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684679"
    }
  ],
  "type": "nucleotide"
}