{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA007274",
  "communityStandardTitle": [
    "NM_004415.4(DSP):c.7780del (p.Ser2594ProfsTer9)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75137[alleleid]",
        "alleleId": 75137,
        "preferredName": "NM_004415.4(DSP):c.7780del (p.Ser2594fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/60561",
        "RCV": [
          "RCV000054449"
        ],
        "variationId": 60561
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.7585275del?assembly=hg19",
        "id": "chr6:g.7585275del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.7585042del?assembly=hg38",
        "id": "chr6:g.7585042del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397514045",
        "rs": 397514045
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 7585042,
          "referenceAllele": "T",
          "start": 7585041
        }
      ],
      "hgvs": [
        "NC_000006.12:g.7585042del",
        "CM000668.2:g.7585042del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 7585275,
          "referenceAllele": "T",
          "start": 7585274
        }
      ],
      "hgvs": [
        "NC_000006.11:g.7585275del",
        "CM000668.1:g.7585275del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 7530274,
          "referenceAllele": "T",
          "start": 7530273
        }
      ],
      "hgvs": [
        "NC_000006.10:g.7530274del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 48406,
          "referenceAllele": "T",
          "start": 48405
        }
      ],
      "hgvs": [
        "NG_008803.1:g.48406del",
        "LRG_423:g.48406del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001222"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7029,
          "referenceAllele": "T",
          "start": 7028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000710359.1:c.6451del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518230.1:p.Ser2151ProfsTer9",
        "hgvsWellDefined": "ENSP00000518230.1:p.[Ser2151_Arg2162delinsProProTyrProAla;Ser2164_Pro2175delinsGly;Ala2177_Phe2180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914523"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8025,
          "referenceAllele": "T",
          "start": 8024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000379802.8:c.7780del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369129.3:p.Ser2594ProfsTer9",
        "hgvsWellDefined": "ENSP00000369129.3:p.[Ser2594_Arg2605delinsProProTyrProAla;Ser2607_Pro2618delinsGly;Ala2620_Phe2623del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752283",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379802.8:c.7780del"
          },
          "RefSeq": {
            "hgvs": "NM_004415.4:c.7780del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369129.3:p.Ser2594ProfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_004406.2:p.Ser2594ProfsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8121,
          "referenceAllele": "T",
          "start": 8120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000379802.7:c.7780del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369129.3:p.Ser2594ProfsTer9",
        "hgvsWellDefined": "ENSP00000369129.3:p.[Ser2594_Arg2605delinsProProTyrProAla;Ser2607_Pro2618delinsGly;Ala2620_Phe2623del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246640"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6282,
          "referenceAllele": "T",
          "start": 6281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000418664.2:c.5983del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396591.2:p.Ser1995ProfsTer9",
        "hgvsWellDefined": "ENSP00000396591.2:p.[Ser1995_Arg2006delinsProProTyrProAla;Ser2008_Pro2019delinsGly;Ala2021_Phe2024del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247262"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6262,
          "referenceAllele": "T",
          "start": 6261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.1:c.5983del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:p.Ser1995ProfsTer9",
        "hgvsWellDefined": "NP_001008844.1:p.[Ser1995_Arg2006delinsProProTyrProAla;Ser2008_Pro2019delinsGly;Ala2021_Phe2024del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008061"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8059,
          "referenceAllele": "T",
          "start": 8058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.2:c.7780del",
        "LRG_423t1:c.7780del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Ser2594ProfsTer9",
        "hgvsWellDefined": "NP_004406.2:p.[Ser2594_Arg2605delinsProProTyrProAla;Ser2607_Pro2618delinsGly;Ala2620_Phe2623del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029576"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6792,
          "referenceAllele": "T",
          "start": 6791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "XM_011514323.1:c.6451del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512625.1:p.Ser2151ProfsTer9",
        "hgvsWellDefined": "XP_011512625.1:p.[Ser2151_Arg2162delinsProProTyrProAla;Ser2164_Pro2175delinsGly;Ala2177_Phe2180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081548"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6324,
          "referenceAllele": "T",
          "start": 6323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.2:c.5983del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:p.Ser1995ProfsTer9",
        "hgvsWellDefined": "NP_001008844.1:p.[Ser1995_Arg2006delinsProProTyrProAla;Ser2008_Pro2019delinsGly;Ala2021_Phe2024del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510980"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6792,
          "referenceAllele": "T",
          "start": 6791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001319034.1:c.6451del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305963.1:p.Ser2151ProfsTer9",
        "hgvsWellDefined": "NP_001305963.1:p.[Ser2151_Arg2162delinsProProTyrProAla;Ser2164_Pro2175delinsGly;Ala2177_Phe2180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513176"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8121,
          "referenceAllele": "T",
          "start": 8120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.3:c.7780del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Ser2594ProfsTer9",
        "hgvsWellDefined": "NP_004406.2:p.[Ser2594_Arg2605delinsProProTyrProAla;Ser2607_Pro2618delinsGly;Ala2620_Phe2623del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525209"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8025,
          "referenceAllele": "T",
          "start": 8024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.4:c.7780del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Ser2594ProfsTer9",
        "hgvsWellDefined": "NP_004406.2:p.[Ser2594_Arg2605delinsProProTyrProAla;Ser2607_Pro2618delinsGly;Ala2620_Phe2623del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379802.8:c.7780del"
          },
          "RefSeq": {
            "hgvs": "NM_004415.4:c.7780del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369129.3:p.Ser2594ProfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_004406.2:p.Ser2594ProfsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6228,
          "referenceAllele": "T",
          "start": 6227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.3:c.5983del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:p.Ser1995ProfsTer9",
        "hgvsWellDefined": "NP_001008844.1:p.[Ser1995_Arg2006delinsProProTyrProAla;Ser2008_Pro2019delinsGly;Ala2021_Phe2024del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675337"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6696,
          "referenceAllele": "T",
          "start": 6695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001319034.2:c.6451del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305963.1:p.Ser2151ProfsTer9",
        "hgvsWellDefined": "NP_001305963.1:p.[Ser2151_Arg2162delinsProProTyrProAla;Ser2164_Pro2175delinsGly;Ala2177_Phe2180del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684679"
    }
  ],
  "type": "nucleotide"
}