{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3044590632",
  "communityStandardTitle": [
    "NM_000061.3(BTK):c.1546_1548del (p.Gln516del)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3540098[alleleid]",
        "alleleId": 3540098,
        "preferredName": "NM_000061.3(BTK):c.1546_1548del (p.Gln516del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3380926",
        "RCV": [
          "RCV004791090"
        ],
        "variationId": 3380926
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 101356074,
          "referenceAllele": "GCT",
          "start": 101356071
        }
      ],
      "hgvs": [
        "NC_000023.11:g.101356072_101356074del",
        "CM000685.2:g.101356072_101356074del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 100611062,
          "referenceAllele": "GCT",
          "start": 100611059
        }
      ],
      "hgvs": [
        "NC_000023.10:g.100611060_100611062del",
        "CM000685.1:g.100611060_100611062del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 100497718,
          "referenceAllele": "GCT",
          "start": 100497715
        }
      ],
      "hgvs": [
        "NC_000023.9:g.100497716_100497718del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 35155,
          "referenceAllele": "GCA",
          "start": 35152
        }
      ],
      "hgvs": [
        "NG_009616.1:g.35153_35155del",
        "LRG_128:g.35153_35155del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001613"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1708,
          "referenceAllele": "GCA",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000478995.2:n.1706_1708del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905263"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1706,
          "referenceAllele": "GCA",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000488970.2:n.1704_1706del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905358"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1679,
          "referenceAllele": "GCA",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695614.1:c.1546_1548del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512053.1:p.Gln516del",
        "hgvsWellDefined": "ENSP00000512053.1:p.Gln516del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907119"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1764,
          "referenceAllele": "GCA",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695615.1:c.1546_1548del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512054.1:p.Gln516del",
        "hgvsWellDefined": "ENSP00000512054.1:p.Gln516del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907120"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1698,
          "referenceAllele": "GCA",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695616.1:c.*1391_*1393del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512055.1:n.*1391_*1393del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907121"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1700,
          "referenceAllele": "GCA",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695617.1:c.1543_1545del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512056.1:p.Gln515del",
        "hgvsWellDefined": "ENSP00000512056.1:p.Gln515del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907122"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1806,
          "referenceAllele": "GCA",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695618.1:c.*1295_*1297del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512058.1:n.*1295_*1297del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907123"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1564,
          "referenceAllele": "GCA",
          "start": 1561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695619.1:c.*1256_*1258del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512059.1:n.*1256_*1258del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1799,
          "referenceAllele": "GCA",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695620.1:c.*1472_*1474del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512060.1:n.*1472_*1474del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907125"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1700,
          "referenceAllele": "GCA",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695621.1:c.1546_1548del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512061.1:p.Gln516del",
        "hgvsWellDefined": "ENSP00000512061.1:p.Gln516del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1637,
          "referenceAllele": "GCA",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695622.1:c.1483_1485del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512062.1:p.Gln495del",
        "hgvsWellDefined": "ENSP00000512062.1:p.Gln495del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907127"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1694,
          "referenceAllele": "GCA",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695623.1:c.1540_1542del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512063.1:p.Gln514del",
        "hgvsWellDefined": "ENSP00000512063.1:p.Gln514del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907128"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 853,
          "referenceAllele": "GCA",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695624.1:n.851_853del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907129"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1700,
          "referenceAllele": "GCA",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695625.1:c.1546_1548del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512064.1:p.Gln516del",
        "hgvsWellDefined": "ENSP00000512064.1:p.Gln516del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907130"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 321,
          "endIntronDirection": "+",
          "endIntronOffset": 714,
          "referenceAllele": "GCA",
          "start": 321,
          "startIntronDirection": "+",
          "startIntronOffset": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695626.1:c.321+712_321+714del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512065.1:n.321+712_321+714del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907131"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 561,
          "referenceAllele": "GCA",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695627.1:c.559_561del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512066.1:p.Gln187del",
        "hgvsWellDefined": "ENSP00000512066.1:p.Gln187del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907132"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 190,
          "endIntronDirection": "+",
          "endIntronOffset": 1439,
          "referenceAllele": "GCA",
          "start": 190,
          "startIntronDirection": "+",
          "startIntronOffset": 1436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695628.1:c.190+1437_190+1439del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512067.1:n.190+1437_190+1439del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907133"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 190,
          "endIntronDirection": "+",
          "endIntronOffset": 1439,
          "referenceAllele": "GCA",
          "start": 190,
          "startIntronDirection": "+",
          "startIntronOffset": 1436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695629.1:c.190+1437_190+1439del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512068.1:n.190+1437_190+1439del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907134"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 358,
          "endIntronDirection": "+",
          "endIntronOffset": 714,
          "referenceAllele": "GCA",
          "start": 358,
          "startIntronDirection": "+",
          "startIntronOffset": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695630.1:c.358+712_358+714del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907135"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 114,
          "endIntronDirection": "+",
          "endIntronOffset": 2240,
          "referenceAllele": "GCA",
          "start": 114,
          "startIntronDirection": "+",
          "startIntronOffset": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695631.1:c.114+2238_114+2240del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907136"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 366,
          "endIntronDirection": "+",
          "endIntronOffset": 714,
          "referenceAllele": "GCA",
          "start": 366,
          "startIntronDirection": "+",
          "startIntronOffset": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695632.1:n.366+712_366+714del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907137"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1351,
          "endIntronDirection": "-",
          "endIntronOffset": 1375,
          "referenceAllele": "GCA",
          "start": 1351,
          "startIntronDirection": "-",
          "startIntronOffset": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000703407.1:c.1039-1378_1039-1376del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512057.1:n.1039-1378_1039-1376del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911688"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1708,
          "referenceAllele": "GCA",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000308731.8:c.1546_1548del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308176.8:p.Gln516del",
        "hgvsWellDefined": "ENSP00000308176.8:p.Gln516del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308731.8:c.1546_1548del"
          },
          "RefSeq": {
            "hgvs": "NM_000061.3:c.1546_1548del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308176.8:p.Gln516del"
          },
          "RefSeq": {
            "hgvs": "NP_000052.1:p.Gln516del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1712,
          "referenceAllele": "GCA",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000308731.7:c.1546_1548del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308176.7:p.Gln516del",
        "hgvsWellDefined": "ENSP00000308176.7:p.Gln516del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256097"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1396,
          "endIntronDirection": "-",
          "endIntronOffset": 1375,
          "referenceAllele": "GCA",
          "start": 1396,
          "startIntronDirection": "-",
          "startIntronOffset": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000372880.5:c.1039-1378_1039-1376del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361971.1:n.1039-1378_1039-1376del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269361"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 220,
          "referenceAllele": "GCA",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000478995.1:n.218_220del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319473"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1548,
          "referenceAllele": "GCA",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000618050.4:c.1546_1548del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479125.1:p.Gln516del",
        "hgvsWellDefined": "ENSP00000479125.1:p.Gln516del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403762"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1897,
          "referenceAllele": "GCA",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000621635.4:c.1648_1650del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483570.1:p.Gln550del",
        "hgvsWellDefined": "ENSP00000483570.1:p.Gln550del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405360"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1741,
          "referenceAllele": "GCA",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.2:c.1546_1548del",
        "LRG_128t1:c.1546_1548del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000052.1:p.Gln516del",
        "hgvsWellDefined": "NP_000052.1:p.Gln516del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057318582",
      "coordinates": [
        {
          "allele": "",
          "end": 1897,
          "referenceAllele": "GCA",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287344.1:c.1648_1650del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Gln550del",
        "hgvsWellDefined": "NP_001274273.1:p.Gln550del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023307"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1396,
          "endIntronDirection": "-",
          "endIntronOffset": 1375,
          "referenceAllele": "GCA",
          "start": 1396,
          "startIntronDirection": "-",
          "startIntronOffset": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.1:c.1039-1378_1039-1376del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274274.1:n.1039-1378_1039-1376del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023308"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1708,
          "referenceAllele": "GCA",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.3:c.1546_1548del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000052.1:p.Gln516del",
        "hgvsWellDefined": "NP_000052.1:p.Gln516del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308731.8:c.1546_1548del"
          },
          "RefSeq": {
            "hgvs": "NM_000061.3:c.1546_1548del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308176.8:p.Gln516del"
          },
          "RefSeq": {
            "hgvs": "NP_000052.1:p.Gln516del"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057318582",
      "coordinates": [
        {
          "allele": "",
          "end": 1897,
          "referenceAllele": "GCA",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287344.2:c.1648_1650del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Gln550del",
        "hgvsWellDefined": "NP_001274273.1:p.Gln550del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716364"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1363,
          "endIntronDirection": "-",
          "endIntronOffset": 1375,
          "referenceAllele": "GCA",
          "start": 1363,
          "startIntronDirection": "-",
          "startIntronOffset": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.2:c.1039-1378_1039-1376del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274274.1:n.1039-1378_1039-1376del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716365"
    }
  ],
  "type": "nucleotide"
}