{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580091629",
  "communityStandardTitle": [
    "NM_020988.3(GNAO1):c.736_738delinsAAA (p.Glu246Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1693683[alleleid]",
        "alleleId": 1693683,
        "preferredName": "NM_020988.3(GNAO1):c.736_738delinsAAA (p.Glu246Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1701291",
        "RCV": [
          "RCV002276030"
        ],
        "variationId": 1701291
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2143699590",
        "rs": 2143699590
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "AAA",
          "end": 56351398,
          "referenceAllele": "GAG",
          "start": 56351395
        }
      ],
      "hgvs": [
        "NC_000016.10:g.56351396_56351398delinsAAA",
        "CM000678.2:g.56351396_56351398delinsAAA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "AAA",
          "end": 56385310,
          "referenceAllele": "GAG",
          "start": 56385307
        }
      ],
      "hgvs": [
        "NC_000016.9:g.56385308_56385310delinsAAA",
        "CM000678.1:g.56385308_56385310delinsAAA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "AAA",
          "end": 54942811,
          "referenceAllele": "GAG",
          "start": 54942808
        }
      ],
      "hgvs": [
        "NC_000016.8:g.54942809_54942811delinsAAA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 165060,
          "referenceAllele": "GAG",
          "start": 165057
        }
      ],
      "hgvs": [
        "NG_042800.1:g.165058_165060delinsAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006007"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 1485,
          "referenceAllele": "GAG",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000262493.12:c.736_738delinsAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262493.6:p.Glu246Lys",
        "hgvsWellDefined": "ENSP00000262493.6:p.Glu246Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742359",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262493.12:c.736_738delinsAAA"
          },
          "RefSeq": {
            "hgvs": "NM_020988.3:c.736_738delinsAAA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262493.6:p.Glu246Lys"
          },
          "RefSeq": {
            "hgvs": "NP_066268.1:p.Glu246Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 405,
          "referenceAllele": "GAG",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000562316.6:c.403_405delinsAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457238.2:p.Glu135Lys",
        "hgvsWellDefined": "ENSP00000457238.2:p.Glu135Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760355"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 42,
          "referenceAllele": "GAG",
          "start": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000564727.2:c.40_42delinsAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454971.2:p.Glu14Lys",
        "hgvsWellDefined": "ENSP00000454971.2:p.Glu14Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760440"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 115,
          "endIntronDirection": "-",
          "endIntronOffset": 3467,
          "referenceAllele": "GAG",
          "start": 115,
          "startIntronDirection": "-",
          "startIntronOffset": 3470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000568375.2:c.116-3470_116-3468delinsAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760548"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 953,
          "referenceAllele": "GAG",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000638185.1:n.951_953delinsAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764403"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 1038,
          "referenceAllele": "GAG",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000638210.1:n.1036_1038delinsAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764412"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 1240,
          "referenceAllele": "GAG",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000638705.1:c.736_738delinsAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491223.1:p.Glu246Lys",
        "hgvsWellDefined": "ENSP00000491223.1:p.Glu246Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764660"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 648,
          "referenceAllele": "GAG",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000638836.1:n.646_648delinsAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764728"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 1459,
          "referenceAllele": "GAG",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639055.1:n.1457_1459delinsAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764841"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 639,
          "referenceAllele": "GAG",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639251.1:n.637_639delinsAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764939"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 373,
          "referenceAllele": "GAG",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639268.1:c.371_373delinsAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764946"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 263,
          "referenceAllele": "GAG",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639341.1:c.261_263delinsAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764978"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 776,
          "referenceAllele": "GAG",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000639770.1:c.774_776delinsAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491999.1:n.774_776delinsAAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765165"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 668,
          "referenceAllele": "GAG",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000640390.1:n.666_668delinsAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765475"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 102,
          "referenceAllele": "GAG",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000640469.1:c.100_102delinsAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491875.1:p.Glu34Lys",
        "hgvsWellDefined": "ENSP00000491875.1:p.Glu34Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765512"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 514,
          "referenceAllele": "GAG",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000640560.1:n.512_514delinsAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765554"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 578,
          "referenceAllele": "GAG",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000640893.1:c.*134_*136delinsAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492677.1:n.*134_*136delinsAAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765720"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 1584,
          "referenceAllele": "GAG",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000262493.10:c.736_738delinsAAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262493.6:p.Glu246Lys",
        "hgvsWellDefined": "ENSP00000262493.6:p.Glu246Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251036"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 115,
          "endIntronDirection": "-",
          "endIntronOffset": 3467,
          "referenceAllele": "GAG",
          "start": 115,
          "startIntronDirection": "-",
          "startIntronOffset": 3470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "ENST00000568375.1:n.116-3470_116-3468delinsAAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204887",
      "coordinates": [
        {
          "allele": "AAA",
          "end": 1635,
          "referenceAllele": "GAG",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "NM_020988.2:c.736_738delinsAAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_066268.1:p.Glu246Lys",
        "hgvsWellDefined": "NP_066268.1:p.Glu246Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036744"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 992,
          "referenceAllele": "GAG",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "XM_011523003.1:c.610_612delinsAAA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521305.1:p.Glu204Lys",
        "hgvsWellDefined": "XP_011521305.1:p.Glu204Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090143"
    },
    {
      "coordinates": [
        {
          "allele": "AAA",
          "end": 983,
          "referenceAllele": "GAG",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "XM_011523003.3:c.610_612delinsAAA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521305.1:p.Glu204Lys",
        "hgvsWellDefined": "XP_011521305.1:p.Glu204Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546847"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204887",
      "coordinates": [
        {
          "allele": "AAA",
          "end": 1485,
          "referenceAllele": "GAG",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004389",
      "geneNCBI_id": 2775,
      "geneSymbol": "GNAO1",
      "hgvs": [
        "NM_020988.3:c.736_738delinsAAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_066268.1:p.Glu246Lys",
        "hgvsWellDefined": "NP_066268.1:p.Glu246Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670174",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262493.12:c.736_738delinsAAA"
          },
          "RefSeq": {
            "hgvs": "NM_020988.3:c.736_738delinsAAA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262493.6:p.Glu246Lys"
          },
          "RefSeq": {
            "hgvs": "NP_066268.1:p.Glu246Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}