{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16603293",
  "communityStandardTitle": [
    "NM_001127222.2(CACNA1A):c.2310_2337dup (p.Glu780GlnfsTer10)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=364063[alleleid]",
        "alleleId": 364063,
        "preferredName": "NM_001127222.2(CACNA1A):c.2310_2337dup (p.Glu780delinsGlnValArgValGlyAlaAlaAspGlnTer)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/377185",
        "RCV": [
          "RCV000440018"
        ],
        "variationId": 377185
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.13410109_13410110insACTGGTCCGCTGCTCCCACACGGACTTG?assembly=hg19",
        "id": "chr19:g.13410109_13410110insACTGGTCCGCTGCTCCCACACGGACTTG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.13299295_13299296insACTGGTCCGCTGCTCCCACACGGACTTG?assembly=hg38",
        "id": "chr19:g.13299295_13299296insACTGGTCCGCTGCTCCCACACGGACTTG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520154",
        "rs": 1057520154
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "ACTGGTCCGCTGCTCCCACACGGACTTG",
          "end": 13299323,
          "referenceAllele": "",
          "start": 13299323
        }
      ],
      "hgvs": [
        "NC_000019.10:g.13299296_13299323dup",
        "CM000681.2:g.13299296_13299323dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "ACTGGTCCGCTGCTCCCACACGGACTTG",
          "end": 13410137,
          "referenceAllele": "",
          "start": 13410137
        }
      ],
      "hgvs": [
        "NC_000019.9:g.13410110_13410137dup",
        "CM000681.1:g.13410110_13410137dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "ACTGGTCCGCTGCTCCCACACGGACTTG",
          "end": 13271137,
          "referenceAllele": "",
          "start": 13271137
        }
      ],
      "hgvs": [
        "NC_000019.8:g.13271110_13271137dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 212165,
          "referenceAllele": "",
          "start": 212165
        }
      ],
      "hgvs": [
        "NG_011569.1:g.212138_212165dup",
        "LRG_7:g.212138_212165dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001829"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2592,
          "referenceAllele": "",
          "start": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000360228.11:c.2310_2337dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353362.5:p.Glu780GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360228.11:c.2310_2337dup"
          },
          "RefSeq": {
            "hgvs": "NM_001127222.2:c.2310_2337dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353362.5:p.Glu780GlnfsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_001120694.1:p.Glu780GlnfsTer10"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2374,
          "referenceAllele": "",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000573710.7:c.2316_2343dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460092.3:p.Glu782GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760716"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2340,
          "referenceAllele": "",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635727.1:c.2313_2340dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490001.1:p.Glu781GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762598"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2611,
          "referenceAllele": "",
          "start": 2611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000635895.1:c.2313_2340dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490323.1:p.Glu781GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762719"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2340,
          "referenceAllele": "",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636012.1:c.2313_2340dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490223.1:p.Glu781GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762807"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2388,
          "referenceAllele": "",
          "start": 2388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636389.1:c.2313_2340dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489992.1:p.Glu781GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763077"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2340,
          "referenceAllele": "",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000636549.1:c.2313_2340dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490578.1:p.Glu781GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763201"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2340,
          "referenceAllele": "",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637276.1:c.2313_2340dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489777.1:p.Glu781GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763746"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2585,
          "referenceAllele": "",
          "start": 2585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637432.1:c.2322_2349dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490617.1:p.Glu784GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763858"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2434,
          "referenceAllele": "",
          "start": 2434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637736.1:c.2172_2199dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489861.1:p.Glu734GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764074"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2596,
          "referenceAllele": "",
          "start": 2596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637769.1:c.2313_2340dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489778.1:p.Glu781GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764094"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2374,
          "referenceAllele": "",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000637927.1:c.2316_2343dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489715.1:p.Glu782GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764214"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2595,
          "referenceAllele": "",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000638009.2:c.2313_2340dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489913.1:p.Glu781GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764272"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2585,
          "referenceAllele": "",
          "start": 2585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000638029.1:c.2322_2349dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489829.1:p.Glu784GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764286"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2535,
          "referenceAllele": "",
          "start": 2535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000664864.1:c.2508_2535dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499449.1:p.Glu846GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772875"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2337,
          "referenceAllele": "",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000360228.9:c.2310_2337dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353362.5:p.Glu780GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265055"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2619,
          "referenceAllele": "",
          "start": 2619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000573710.6:c.2313_2340dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460092.2:p.Glu781GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383401"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2349,
          "referenceAllele": "",
          "start": 2349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "ENST00000614285.4:c.2322_2349dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479983.1:p.Glu784GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402117"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2585,
          "referenceAllele": "",
          "start": 2585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_000068.3:c.2322_2349dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000059.3:p.Glu784GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006132"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2576,
          "referenceAllele": "",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127221.1:c.2313_2340dup",
        "LRG_7t1:c.2313_2340dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120693.1:p.Glu781GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011554"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2573,
          "referenceAllele": "",
          "start": 2573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127222.1:c.2310_2337dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120694.1:p.Glu780GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011555"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2576,
          "referenceAllele": "",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001174080.1:c.2313_2340dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001167551.1:p.Glu781GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015653"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2585,
          "referenceAllele": "",
          "start": 2585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_023035.2:c.2322_2349dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_075461.2:p.Glu784GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037547"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2604,
          "referenceAllele": "",
          "start": 2604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_000068.4:c.2322_2349dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000059.3:p.Glu784GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674685"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2592,
          "referenceAllele": "",
          "start": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127222.2:c.2310_2337dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120694.1:p.Glu780GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676856",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360228.11:c.2310_2337dup"
          },
          "RefSeq": {
            "hgvs": "NM_001127222.2:c.2310_2337dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353362.5:p.Glu780GlnfsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_001120694.1:p.Glu780GlnfsTer10"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2595,
          "referenceAllele": "",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001174080.2:c.2313_2340dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001167551.1:p.Glu781GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678846"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2604,
          "referenceAllele": "",
          "start": 2604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_023035.3:c.2322_2349dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_075461.2:p.Glu784GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698619"
    },
    {
      "coordinates": [
        {
          "allele": "CAAGTCCGTGTGGGAGCAGCGGACCAGT",
          "end": 2595,
          "referenceAllele": "",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NM_001127221.2:c.2313_2340dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120693.1:p.Glu781GlnfsTer10"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712197"
    }
  ],
  "type": "nucleotide"
}