{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA495586127",
  "communityStandardTitle": [
    "NM_031885.5(BBS2):c.1725del (p.Phe575LeufsTer8)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1378469",
        "active": true,
        "id": "COSM1378469"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1200364[alleleid]",
        "alleleId": 1200364,
        "preferredName": "NM_031885.5(BBS2):c.1725del (p.Phe575fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1210364",
        "RCV": [
          "RCV001580639"
        ],
        "variationId": 1210364
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.56531727del?assembly=hg19",
        "id": "chr16:g.56531727del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2144132609",
        "rs": 2144132609
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 56497820,
          "referenceAllele": "A",
          "start": 56497819
        }
      ],
      "hgvs": [
        "NC_000016.10:g.56497820del",
        "CM000678.2:g.56497820del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 56531732,
          "referenceAllele": "A",
          "start": 56531731
        }
      ],
      "hgvs": [
        "NC_000016.9:g.56531732del",
        "CM000678.1:g.56531732del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 55089233,
          "referenceAllele": "A",
          "start": 55089232
        }
      ],
      "hgvs": [
        "NC_000016.8:g.55089233del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 27469,
          "referenceAllele": "T",
          "start": 27468
        }
      ],
      "hgvs": [
        "NG_009312.1:g.27469del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001565"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 27210,
          "referenceAllele": "T",
          "start": 27209
        }
      ],
      "hgvs": [
        "NG_009312.2:g.27210del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706094"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1712,
          "referenceAllele": "T",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000561877.2:c.1712del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454986.2:n.1712del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826082"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2549,
          "referenceAllele": "T",
          "start": 2548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000562813.2:n.2549del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826091"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 452,
          "referenceAllele": "T",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000564459.6:n.452del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826104"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5256,
          "referenceAllele": "T",
          "start": 5255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000565781.6:n.5256del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826114"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2799,
          "referenceAllele": "T",
          "start": 2798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000565859.2:n.2799del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826115"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2154,
          "referenceAllele": "T",
          "start": 2153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000566210.2:n.2154del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826119"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5239,
          "referenceAllele": "T",
          "start": 5238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000566410.2:n.5239del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826120"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2185,
          "referenceAllele": "T",
          "start": 2184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000566452.2:n.2185del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826121"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 694,
          "referenceAllele": "T",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000566495.2:n.694del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826122"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1854,
          "endIntronDirection": "+",
          "endIntronOffset": 622,
          "referenceAllele": "T",
          "start": 1854,
          "startIntronDirection": "+",
          "startIntronOffset": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000568104.6:c.1659+622del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456289.1:n.1659+622del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826134"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 830,
          "referenceAllele": "T",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000569192.6:n.830del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826147"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 504,
          "referenceAllele": "T",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000618027.2:n.504del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826504"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1283,
          "referenceAllele": "T",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682000.1:n.1283del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826999"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2754,
          "referenceAllele": "T",
          "start": 2753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682001.1:n.2754del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827000"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1716,
          "referenceAllele": "T",
          "start": 1715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682005.1:n.1716del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827004"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1987,
          "referenceAllele": "T",
          "start": 1986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682038.1:c.*1114del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508404.1:n.*1114del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827036"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1866,
          "referenceAllele": "T",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682047.1:c.1725del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507699.1:p.Phe575LeufsTer8",
        "hgvsWellDefined": "ENSP00000507699.1:p.[Phe575_Asp579delinsLeu;Gln581_Glu592del;Arg594del;Val596_Val598delinsThrPhe;Asp601_Val606del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827045"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5586,
          "referenceAllele": "T",
          "start": 5585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682088.1:c.*4666del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508064.1:n.*4666del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827085"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4175,
          "referenceAllele": "T",
          "start": 4174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682096.1:n.4175del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827093"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3942,
          "referenceAllele": "T",
          "start": 3941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682113.1:n.3942del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827110"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2882,
          "referenceAllele": "T",
          "start": 2881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682146.1:n.2882del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827143"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2054,
          "referenceAllele": "T",
          "start": 2053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682187.1:c.*1149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507203.1:n.*1149del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827184"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1938,
          "referenceAllele": "T",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682188.1:c.1725del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507655.1:p.Phe575LeufsTer8",
        "hgvsWellDefined": "ENSP00000507655.1:p.[Phe575_Asp579del;Gln581_Glu592del;Arg594_Val596del;Val598del;Lys600Thr;Val602_Phe605delinsLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827185"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1716,
          "referenceAllele": "T",
          "start": 1715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682201.1:n.1716del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827197"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1887,
          "referenceAllele": "T",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682205.1:c.1725del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508377.1:p.Phe575LeufsTer8",
        "hgvsWellDefined": "ENSP00000508377.1:p.[Phe575_Asp579delinsLeu;Gln581_Glu592del;Arg594del;Val596_Val598delinsThrPhe;Asp601_Val606del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827201"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1991,
          "referenceAllele": "T",
          "start": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682348.1:c.*774del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506965.1:n.*774del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827340"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1701,
          "referenceAllele": "T",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682360.1:c.1128del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508007.1:p.Phe376LeufsTer8",
        "hgvsWellDefined": "ENSP00000508007.1:p.[Phe376_Asp380delinsLeu;Gln382_Glu393del;Arg395del;Val397_Val399delinsThrPhe;Asp402_Val407del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827352"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3091,
          "referenceAllele": "T",
          "start": 3090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682370.1:n.3091del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827362"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2272,
          "referenceAllele": "T",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682420.1:n.2272del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827411"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1894,
          "referenceAllele": "T",
          "start": 1893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682429.1:c.*394del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506827.1:n.*394del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827420"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1793,
          "referenceAllele": "T",
          "start": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682449.1:c.*476del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507836.1:n.*476del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827439"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1912,
          "referenceAllele": "T",
          "start": 1911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682470.1:c.1725del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507654.1:p.Phe575LeufsTer8",
        "hgvsWellDefined": "ENSP00000507654.1:p.[Phe575_Asp579delinsLeu;Gln581_Glu592del;Arg594del;Val596_Val598delinsThrPhe;Asp601_Val606del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827460"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1690,
          "referenceAllele": "T",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682473.1:n.1690del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827463"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1714,
          "referenceAllele": "T",
          "start": 1713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682482.1:c.1599del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507903.1:p.Phe533LeufsTer8",
        "hgvsWellDefined": "ENSP00000507903.1:p.[Phe533_Asp537delinsLeu;Gln539_Glu550del;Arg552del;Val554_Val556delinsThrPhe;Asp559_Val564del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827472"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1813,
          "referenceAllele": "T",
          "start": 1812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682492.1:n.1813del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827482"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2083,
          "referenceAllele": "T",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682493.1:c.*320del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506778.1:n.*320del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827483"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2069,
          "referenceAllele": "T",
          "start": 2068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682543.1:c.*1149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507592.1:n.*1149del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827533"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3912,
          "referenceAllele": "T",
          "start": 3911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682597.1:n.3912del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827587"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 326,
          "referenceAllele": "T",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682623.1:n.326del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827612"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1858,
          "referenceAllele": "T",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682658.1:c.*757del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507773.1:n.*757del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827647"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2794,
          "referenceAllele": "T",
          "start": 2793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682705.1:n.2794del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827694"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1716,
          "referenceAllele": "T",
          "start": 1715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682723.1:c.1128del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507115.1:p.Phe376LeufsTer8",
        "hgvsWellDefined": "ENSP00000507115.1:p.[Phe376_Asp380delinsLeu;Gln382_Glu393del;Arg395del;Val397_Val399delinsThrPhe;Asp402_Val407del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827712"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4313,
          "referenceAllele": "T",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682735.1:c.*3393del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507007.1:n.*3393del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827724"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1766,
          "referenceAllele": "T",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682737.1:c.1128del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506876.1:p.Phe376LeufsTer8",
        "hgvsWellDefined": "ENSP00000506876.1:p.[Phe376_Asp380delinsLeu;Gln382_Glu393del;Arg395del;Val397_Val399delinsThrPhe;Asp402_Val407del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827726"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3418,
          "referenceAllele": "T",
          "start": 3417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682757.1:n.3418del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827746"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1887,
          "referenceAllele": "T",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682855.1:c.1725del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507027.1:p.Phe575LeufsTer8",
        "hgvsWellDefined": "ENSP00000507027.1:p.[Phe575_Asp579delinsLeu;Gln581_Glu592del;Arg594del;Val596_Val598delinsThrPhe;Asp601_Val606del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827843"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1938,
          "referenceAllele": "T",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682875.1:c.1725del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507771.1:p.Phe575LeufsTer8",
        "hgvsWellDefined": "ENSP00000507771.1:p.[Phe575_Asp579delinsLeu;Gln581_Glu592del;Arg594del;Val596_Val598delinsThrPhe;Asp601_Val606del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827863"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1833,
          "referenceAllele": "T",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682930.1:c.1650del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507981.1:p.Phe550LeufsTer8",
        "hgvsWellDefined": "ENSP00000507981.1:p.[Phe550_Asp554delinsLeu;Gln556_Glu567del;Arg569del;Val571_Val573delinsThrPhe;Asp576_Val581del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827918"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2757,
          "referenceAllele": "T",
          "start": 2756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682948.1:n.2757del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827936"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3966,
          "referenceAllele": "T",
          "start": 3965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000682960.1:n.3966del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827948"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5121,
          "referenceAllele": "T",
          "start": 5120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683008.1:n.5121del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827995"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1766,
          "referenceAllele": "T",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683020.1:c.*266del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507944.1:n.*266del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828007"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3091,
          "referenceAllele": "T",
          "start": 3090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683099.1:n.3091del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828084"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3450,
          "referenceAllele": "T",
          "start": 3449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683170.1:n.3450del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828154"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1740,
          "referenceAllele": "T",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683212.1:c.*266del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507839.1:n.*266del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828194"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3683,
          "referenceAllele": "T",
          "start": 3682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683248.1:n.3683del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828230"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2579,
          "referenceAllele": "T",
          "start": 2578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683343.1:n.2579del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828323"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1932,
          "referenceAllele": "T",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683347.1:n.1932del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828327"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1746,
          "referenceAllele": "T",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683384.1:c.1746del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508330.1:n.1746del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828363"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4502,
          "referenceAllele": "T",
          "start": 4501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683396.1:n.4502del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828375"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2147,
          "referenceAllele": "T",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683410.1:n.2147del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828387"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1359,
          "referenceAllele": "T",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683443.1:n.1359del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828420"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4293,
          "referenceAllele": "T",
          "start": 4292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683485.1:n.4293del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828459"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7316,
          "referenceAllele": "T",
          "start": 7315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683504.1:n.7316del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828478"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1854,
          "referenceAllele": "T",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683533.1:c.*1149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508296.1:n.*1149del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828507"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3794,
          "referenceAllele": "T",
          "start": 3793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683609.1:n.3794del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828581"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2172,
          "referenceAllele": "T",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683644.1:c.*899del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507914.1:n.*899del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828615"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1938,
          "referenceAllele": "T",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683660.1:n.1938del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828631"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1608,
          "referenceAllele": "T",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683669.1:n.1608del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828640"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4097,
          "referenceAllele": "T",
          "start": 4096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683690.1:c.*3177del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508152.1:n.*3177del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828661"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1708,
          "referenceAllele": "T",
          "start": 1707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683719.1:n.1708del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828690"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1714,
          "referenceAllele": "T",
          "start": 1713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683757.1:n.1714del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828728"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1890,
          "referenceAllele": "T",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683858.1:c.1677del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507657.1:p.Phe559LeufsTer8",
        "hgvsWellDefined": "ENSP00000507657.1:p.[Phe559_Asp563delinsLeu;Gln565_Glu576del;Arg578del;Val580_Val582delinsThrPhe;Asp585_Val590del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828825"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1578,
          "referenceAllele": "T",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683875.1:c.1497del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507602.1:p.Phe499LeufsTer8",
        "hgvsWellDefined": "ENSP00000507602.1:p.[Phe499_Asp503delinsLeu;Gln505_Glu516del;Arg518del;Val520_Val522delinsThrPhe;Asp525_Val530del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828842"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4030,
          "referenceAllele": "T",
          "start": 4029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683904.1:n.4030del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828870"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4420,
          "referenceAllele": "T",
          "start": 4419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683910.1:n.4420del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828876"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1842,
          "referenceAllele": "T",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683959.1:c.*774del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508309.1:n.*774del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828922"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1903,
          "referenceAllele": "T",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683976.1:c.*1274del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507183.1:n.*1274del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828939"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1868,
          "referenceAllele": "T",
          "start": 1867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683978.1:n.1868del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828941"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2237,
          "referenceAllele": "T",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000683992.1:c.*1365del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508144.1:n.*1365del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828955"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2147,
          "referenceAllele": "T",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000684020.1:n.2147del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828981"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2713,
          "referenceAllele": "T",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000684044.1:n.2713del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829005"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2643,
          "referenceAllele": "T",
          "start": 2642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000684057.1:n.2643del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3105,
          "referenceAllele": "T",
          "start": 3104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000684076.1:n.3105del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829035"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3293,
          "referenceAllele": "T",
          "start": 3292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000684128.1:n.3293del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829086"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3356,
          "referenceAllele": "T",
          "start": 3355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000684194.1:n.3356del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829152"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3404,
          "referenceAllele": "T",
          "start": 3403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000684205.1:n.3404del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829162"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2285,
          "referenceAllele": "T",
          "start": 2284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000684246.1:c.*1365del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508273.1:n.*1365del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829203"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 645,
          "referenceAllele": "T",
          "start": 644
        }
      ],
      "hgvs": [
        "ENST00000684388.1:c.645del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507647.1:p.Phe215LeufsTer8",
        "hgvsWellDefined": "ENSP00000507647.1:p.[Phe215_Asp219delinsLeu;Gln221_Glu232del;Arg234del;Val236_Val238delinsThrPhe;Asp241_Val246del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829343"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2966,
          "referenceAllele": "T",
          "start": 2965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000684402.1:n.2966del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829357"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3209,
          "referenceAllele": "T",
          "start": 3208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000684446.1:n.3209del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829400"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3167,
          "referenceAllele": "T",
          "start": 3166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000684531.1:n.3167del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829484"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1826,
          "referenceAllele": "T",
          "start": 1825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000684635.1:c.1620del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507335.1:p.Phe540LeufsTer8",
        "hgvsWellDefined": "ENSP00000507335.1:p.[Phe540_Asp544delinsLeu;Gln546_Glu557del;Arg559del;Val561_Val563delinsThrPhe;Asp566_Val571del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829586"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1687,
          "referenceAllele": "T",
          "start": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000684640.1:c.1687del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507292.1:n.1687del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829591"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2015,
          "referenceAllele": "T",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000684673.1:c.*320del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507746.1:n.*320del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829624"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1897,
          "referenceAllele": "T",
          "start": 1896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000684684.1:c.*977del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507026.1:n.*977del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829635"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1887,
          "referenceAllele": "T",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000245157.11:c.1725del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245157.5:p.Phe575LeufsTer8",
        "hgvsWellDefined": "ENSP00000245157.5:p.[Phe575_Asp579delinsLeu;Gln581_Glu592del;Arg594del;Val596_Val598delinsThrPhe;Asp601_Val606del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741237",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245157.11:c.1725del"
          },
          "RefSeq": {
            "hgvs": "NM_031885.5:c.1725del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245157.5:p.Phe575LeufsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_114091.4:p.Phe575LeufsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2146,
          "referenceAllele": "T",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000245157.9:c.1725del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245157.5:p.Phe575LeufsTer8",
        "hgvsWellDefined": "ENSP00000245157.5:p.[Phe575_Asp579delinsLeu;Gln581_Glu592del;Arg594del;Val596_Val598delinsThrPhe;Asp601_Val606del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249367"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 549,
          "referenceAllele": "T",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000561877.1:c.549del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376413"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2549,
          "referenceAllele": "T",
          "start": 2548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000562813.1:n.2549del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377025"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5256,
          "referenceAllele": "T",
          "start": 5255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000565781.5:n.5256del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378968"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 694,
          "referenceAllele": "T",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000566495.1:n.694del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379481"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1838,
          "endIntronDirection": "+",
          "endIntronOffset": 622,
          "referenceAllele": "T",
          "start": 1838,
          "startIntronDirection": "+",
          "startIntronOffset": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000568104.5:c.1659+622del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456289.1:n.1659+622del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380555"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 399,
          "referenceAllele": "T",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "ENST00000569192.5:n.399del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381303"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1959,
          "referenceAllele": "T",
          "start": 1958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "NM_031885.3:c.1725del"
      ],
      "proteinEffect": {
        "hgvs": "NP_114091.3:p.Phe575LeufsTer8",
        "hgvsWellDefined": "NP_114091.3:p.[Phe575_Asp579delinsLeu;Gln581_Glu592del;Arg594del;Val596_Val598delinsThrPhe;Asp601_Val606del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038708"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1958,
          "referenceAllele": "T",
          "start": 1957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "XM_005256080.1:c.1725del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256137.1:p.Phe575LeufsTer8",
        "hgvsWellDefined": "XP_005256137.1:p.[Phe575_Asp579delinsLeu;Gln581_Glu592del;Arg594del;Val596_Val598delinsThrPhe;Asp601_Val606del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061154"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1786,
          "referenceAllele": "T",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "XR_933378.1:n.1786del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128976"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1958,
          "referenceAllele": "T",
          "start": 1957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "XM_005256080.2:c.1725del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256137.1:p.Phe575LeufsTer8",
        "hgvsWellDefined": "XP_005256137.1:p.[Phe575_Asp579delinsLeu;Gln581_Glu592del;Arg594del;Val596_Val598delinsThrPhe;Asp601_Val606del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534383"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2086,
          "referenceAllele": "T",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "XR_001751958.1:n.2086del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598737"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2083,
          "referenceAllele": "T",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "XR_001751959.2:n.2083del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598738"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1786,
          "referenceAllele": "T",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "XR_001751960.1:n.1786del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598739"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1786,
          "referenceAllele": "T",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "XR_001751961.1:n.1786del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598740"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1914,
          "referenceAllele": "T",
          "start": 1913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "XR_933380.2:n.1914del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610413"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1887,
          "referenceAllele": "T",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "NM_031885.4:c.1725del"
      ],
      "proteinEffect": {
        "hgvs": "NP_114091.3:p.Phe575LeufsTer8",
        "hgvsWellDefined": "NP_114091.3:p.[Phe575_Asp579delinsLeu;Gln581_Glu592del;Arg594del;Val596_Val598delinsThrPhe;Asp601_Val606del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671142"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1887,
          "referenceAllele": "T",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "NM_001377456.1:c.1725del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364385.1:p.Phe575LeufsTer8",
        "hgvsWellDefined": "NP_001364385.1:p.[Phe575_Asp579delinsLeu;Gln581_Glu592del;Arg594del;Val596_Val598delinsThrPhe;Asp601_Val606del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695223"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1887,
          "referenceAllele": "T",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "NM_031885.5:c.1725del"
      ],
      "proteinEffect": {
        "hgvs": "NP_114091.4:p.Phe575LeufsTer8",
        "hgvsWellDefined": "NP_114091.4:p.[Phe575_Asp579delinsLeu;Gln581_Glu592del;Arg594del;Val596_Val598delinsThrPhe;Asp601_Val606del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698976",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245157.11:c.1725del"
          },
          "RefSeq": {
            "hgvs": "NM_031885.5:c.1725del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245157.5:p.Phe575LeufsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_114091.4:p.Phe575LeufsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2015,
          "referenceAllele": "T",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "NR_165293.1:n.2015del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706058"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2012,
          "referenceAllele": "T",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "NR_165294.1:n.2012del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706059"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1843,
          "referenceAllele": "T",
          "start": 1842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "NR_165295.1:n.1843del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706060"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1715,
          "referenceAllele": "T",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "NR_165296.1:n.1715del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706061"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1715,
          "referenceAllele": "T",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000967",
      "geneNCBI_id": 583,
      "geneSymbol": "BBS2",
      "hgvs": [
        "NR_165297.1:n.1715del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706062"
    }
  ],
  "type": "nucleotide"
}