{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA336470",
  "communityStandardTitle": [
    "NM_024577.4(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212508[alleleid]",
        "alleleId": 212508,
        "preferredName": "NM_024577.4(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216005",
        "RCV": [
          "RCV000196497",
          "RCV002288810",
          "RCV002399744"
        ],
        "variationId": 216005
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.148407708_148407709delinsCT?assembly=hg19",
        "id": "chr5:g.148407708_148407709delinsCT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149028145_149028146delinsCT?assembly=hg38",
        "id": "chr5:g.149028145_149028146delinsCT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863224454",
        "rs": 863224454
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "CT",
          "end": 149028146,
          "referenceAllele": "AC",
          "start": 149028144
        }
      ],
      "hgvs": [
        "NC_000005.10:g.149028145_149028146delinsCT",
        "CM000667.2:g.149028145_149028146delinsCT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "CT",
          "end": 148407709,
          "referenceAllele": "AC",
          "start": 148407707
        }
      ],
      "hgvs": [
        "NC_000005.9:g.148407708_148407709delinsCT",
        "CM000667.1:g.148407708_148407709delinsCT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "CT",
          "end": 148387902,
          "referenceAllele": "AC",
          "start": 148387900
        }
      ],
      "hgvs": [
        "NC_000005.8:g.148387901_148387902delinsCT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 40030,
          "referenceAllele": "GT",
          "start": 40028
        }
      ],
      "hgvs": [
        "NG_007947.2:g.40029_40030delinsAG",
        "LRG_269:g.40029_40030delinsAG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000715"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1483,
          "referenceAllele": "GT",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000502274.2:c.1482_1483delinsAG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757928"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1627,
          "referenceAllele": "GT",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000515425.6:c.1586_1587delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423660.1:p.Arg529Gln",
        "hgvsWellDefined": "ENSP00000423660.1:p.Arg529Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758388",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000515425.6:c.1586_1587delinsAG"
          },
          "RefSeq": {
            "hgvs": "NM_024577.4:c.1586_1587delinsAG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423660.1:p.Arg529Gln"
          },
          "RefSeq": {
            "hgvs": "NP_078853.2:p.Arg529Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1967,
          "referenceAllele": "GT",
          "start": 1965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000675793.1:c.*870_*871delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502039.1:n.*870_*871delinsAG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775564"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1831,
          "referenceAllele": "GT",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000676056.1:c.*1096_*1097delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501827.1:n.*1096_*1097delinsAG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775794"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1681,
          "referenceAllele": "GT",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000323829.9:c.*974_*975delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313025.5:n.*974_*975delinsAG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258259"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1117,
          "referenceAllele": "GT",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000504517.5:c.1116_1117delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421779.1:n.1116_1117delinsAG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336558"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1728,
          "referenceAllele": "GT",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000504690.5:c.1586_1587delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425627.1:p.Arg529Gln",
        "hgvsWellDefined": "ENSP00000425627.1:p.Arg529Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336681"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 637,
          "referenceAllele": "GT",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000510779.1:c.636_637delinsAG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341192"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1695,
          "referenceAllele": "GT",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000511307.5:c.*1366_*1367delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421420.1:n.*1366_*1367delinsAG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341603"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1633,
          "referenceAllele": "GT",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000512049.5:c.1565_1566delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421860.1:p.Arg522Gln",
        "hgvsWellDefined": "ENSP00000421860.1:p.Arg522Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342171"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1684,
          "referenceAllele": "GT",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000513604.5:c.*974_*975delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423111.1:n.*974_*975delinsAG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343306"
    },
    {
      "coordinates": [
        {
          "allele": "AG",
          "end": 1689,
          "referenceAllele": "GT",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000515425.5:c.1586_1587delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423660.1:p.Arg529Gln",
        "hgvsWellDefined": "ENSP00000423660.1:p.Arg529Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113685",
      "coordinates": [
        {
          "allele": "AG",
          "end": 1739,
          "referenceAllele": "GT",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "NM_024577.3:c.1586_1587delinsAG",
        "LRG_269t1:c.1586_1587delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "NP_078853.2:p.Arg529Gln",
        "hgvsWellDefined": "NP_078853.2:p.Arg529Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113685",
      "coordinates": [
        {
          "allele": "AG",
          "end": 1627,
          "referenceAllele": "GT",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "NM_024577.4:c.1586_1587delinsAG"
      ],
      "proteinEffect": {
        "hgvs": "NP_078853.2:p.Arg529Gln",
        "hgvsWellDefined": "NP_078853.2:p.Arg529Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698719",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000515425.6:c.1586_1587delinsAG"
          },
          "RefSeq": {
            "hgvs": "NM_024577.4:c.1586_1587delinsAG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423660.1:p.Arg529Gln"
          },
          "RefSeq": {
            "hgvs": "NP_078853.2:p.Arg529Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}