{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA024679",
  "communityStandardTitle": [
    "NM_000540.3(RYR1):c.7042_7044del (p.Glu2348del)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=136927[alleleid]",
        "alleleId": 136927,
        "preferredName": "NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133180",
        "RCV": [
          "RCV000013850",
          "RCV000119679",
          "RCV000171131",
          "RCV001787982",
          "RCV001787984",
          "RCV001787979",
          "RCV001787980",
          "RCV001787981",
          "RCV001384027",
          "RCV001787983",
          "RCV001787985"
        ],
        "variationId": 133180
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-38990284-TGGA-T",
        "id": "19-38990284-TGGA-T",
        "variant": "19:38990284 TGGA / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.38990289_38990291del?assembly=hg19",
        "id": "chr19:g.38990289_38990291del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.38990285_38990287del?assembly=hg19",
        "id": "chr19:g.38990285_38990287del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.38499649_38499651del?assembly=hg38",
        "id": "chr19:g.38499649_38499651del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.38499645_38499647del?assembly=hg38",
        "id": "chr19:g.38499645_38499647del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918596",
        "rs": 121918596
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-38990284-TGGA-T?dataset=gnomad_r2_1",
        "id": "19-38990284-TGGA-T",
        "variant": "19:38990284 TGGA / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-38499644-TGGA-T?dataset=gnomad_r3",
        "id": "19-38499644-TGGA-T",
        "variant": "19:38499644 TGGA / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-38499644-TGGA-T?dataset=gnomad_r4",
        "id": "19-38499644-TGGA-T",
        "variant": "19:38499644 TGGA / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 38499651,
          "referenceAllele": "GAG",
          "start": 38499648
        }
      ],
      "hgvs": [
        "NC_000019.10:g.38499649_38499651del",
        "CM000681.2:g.38499649_38499651del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 38990291,
          "referenceAllele": "GAG",
          "start": 38990288
        }
      ],
      "hgvs": [
        "NC_000019.9:g.38990289_38990291del",
        "CM000681.1:g.38990289_38990291del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 43682131,
          "referenceAllele": "GAG",
          "start": 43682128
        }
      ],
      "hgvs": [
        "NC_000019.8:g.43682129_43682131del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 70952,
          "referenceAllele": "GAG",
          "start": 70949
        }
      ],
      "hgvs": [
        "NG_008866.1:g.70950_70952del",
        "LRG_766:g.70950_70952del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001261"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7044,
          "referenceAllele": "GAG",
          "start": 7041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000599547.6:c.7042_7044del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471601.2:p.Glu2348del",
        "hgvsWellDefined": "ENSP00000471601.2:p.Glu2348del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826332"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7183,
          "referenceAllele": "GAG",
          "start": 7180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.8:c.7042_7044del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Glu2348del",
        "hgvsWellDefined": "ENSP00000352608.2:p.Glu2348del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749219",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.7042_7044del"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.7042_7044del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Glu2348del"
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Glu2348del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7175,
          "referenceAllele": "GAG",
          "start": 7172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000355481.8:c.7042_7044del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347667.3:p.Glu2348del",
        "hgvsWellDefined": "ENSP00000347667.3:p.Glu2348del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247177"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7044,
          "referenceAllele": "GAG",
          "start": 7041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000359596.7:c.7042_7044del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352608.2:p.Glu2348del",
        "hgvsWellDefined": "ENSP00000352608.2:p.Glu2348del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246733"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7148,
          "referenceAllele": "GAG",
          "start": 7145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000360985.7:c.7039_7041del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354254.4:p.Glu2347del",
        "hgvsWellDefined": "ENSP00000354254.4:p.Glu2347del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247225"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 496,
          "referenceAllele": "GAG",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "ENST00000594335.5:c.494_496del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA232060",
      "coordinates": [
        {
          "allele": "",
          "end": 7174,
          "referenceAllele": "GAG",
          "start": 7171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.2:c.7042_7044del",
        "LRG_766t1:c.7042_7044del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Glu2348del",
        "hgvsWellDefined": "NP_000531.2:p.Glu2348del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139680788",
      "coordinates": [
        {
          "allele": "",
          "end": 7174,
          "referenceAllele": "GAG",
          "start": 7171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.1:c.7042_7044del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Glu2348del",
        "hgvsWellDefined": "NP_001036188.1:p.Glu2348del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009808"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7108,
          "referenceAllele": "GAG",
          "start": 7105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.1:c.7042_7044del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Glu2348del",
        "hgvsWellDefined": "XP_006723380.1:p.Glu2348del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074994"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7108,
          "referenceAllele": "GAG",
          "start": 7105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.1:c.7042_7044del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Glu2348del",
        "hgvsWellDefined": "XP_006723382.1:p.Glu2348del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074995"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7105,
          "referenceAllele": "GAG",
          "start": 7102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527204.1:c.7039_7041del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525506.1:p.Glu2347del",
        "hgvsWellDefined": "XP_011525506.1:p.Glu2347del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094298"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7108,
          "referenceAllele": "GAG",
          "start": 7105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.1:c.7042_7044del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Glu2348del",
        "hgvsWellDefined": "XP_011525507.1:p.Glu2348del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094299"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7124,
          "referenceAllele": "GAG",
          "start": 7121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723317.2:c.7042_7044del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723380.1:p.Glu2348del",
        "hgvsWellDefined": "XP_006723380.1:p.Glu2348del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540735"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7124,
          "referenceAllele": "GAG",
          "start": 7121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_006723319.2:c.7042_7044del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723382.1:p.Glu2348del",
        "hgvsWellDefined": "XP_006723382.1:p.Glu2348del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540736"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7124,
          "referenceAllele": "GAG",
          "start": 7121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XM_011527205.2:c.7042_7044del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525507.1:p.Glu2348del",
        "hgvsWellDefined": "XP_011525507.1:p.Glu2348del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548573"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7127,
          "referenceAllele": "GAG",
          "start": 7124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "XR_001753735.1:n.7125_7127del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600196"
    },
    {
      "@id": "http://reg.genome.network/allele/PA232060",
      "coordinates": [
        {
          "allele": "",
          "end": 7183,
          "referenceAllele": "GAG",
          "start": 7180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_000540.3:c.7042_7044del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000531.2:p.Glu2348del",
        "hgvsWellDefined": "NP_000531.2:p.Glu2348del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674884",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359596.8:c.7042_7044del"
          },
          "RefSeq": {
            "hgvs": "NM_000540.3:c.7042_7044del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352608.2:p.Glu2348del"
          },
          "RefSeq": {
            "hgvs": "NP_000531.2:p.Glu2348del"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139680788",
      "coordinates": [
        {
          "allele": "",
          "end": 7183,
          "referenceAllele": "GAG",
          "start": 7180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NM_001042723.2:c.7042_7044del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036188.1:p.Glu2348del",
        "hgvsWellDefined": "NP_001036188.1:p.Glu2348del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676082"
    }
  ],
  "type": "nucleotide"
}