{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2146469638",
  "communityStandardTitle": [
    "NM_000021.4(PSEN1):c.131_147delinsTTGGCCACCCTGAGCCA (p.Leu44=)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 73170856,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 73170839
        }
      ],
      "hgvs": [
        "NC_000014.9:g.73170840_73170856delinsTTGGCCACCCTGAGCCA",
        "CM000676.2:g.73170840_73170856delinsTTGGCCACCCTGAGCCA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 73637564,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 73637547
        }
      ],
      "hgvs": [
        "NC_000014.8:g.73637548_73637564delinsTTGGCCACCCTGAGCCA",
        "CM000676.1:g.73637548_73637564delinsTTGGCCACCCTGAGCCA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 72707317,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 72707300
        }
      ],
      "hgvs": [
        "NC_000014.7:g.72707301_72707317delinsTTGGCCACCCTGAGCCA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 39386,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 39369
        }
      ],
      "hgvs": [
        "NG_007386.2:g.39370_39386delinsTTGGCCACCCTGAGCCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000560"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 544,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553447.7:c.*75_*91delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514869.1:n.*75_*91delinsTTGGCCACCCTGAGCCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905852"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 451,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553599.6:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452477.2:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905856"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 411,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000554131.6:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451915.2:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905859"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 403,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555386.6:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450845.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905866"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 591,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556011.6:c.*75_*91delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451662.2:n.*75_*91delinsTTGGCCACCCTGAGCCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905871"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 573,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556066.2:n.557_573delinsTTGGCCACCCTGAGCCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905873"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 414,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556951.6:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450551.2:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905881"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 425,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557293.6:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451880.2:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905886"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 462,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000559361.6:c.*75_*91delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454156.1:n.*75_*91delinsTTGGCCACCCTGAGCCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905908"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 403,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000697912.1:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513477.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909070"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 401,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000697913.1:n.385_401delinsTTGGCCACCCTGAGCCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909071"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 359,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000697914.1:n.343_359delinsTTGGCCACCCTGAGCCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909072"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 263,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700265.1:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514901.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911092"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 642,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700266.1:c.*220_*236delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514902.1:n.*220_*236delinsTTGGCCACCCTGAGCCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911093"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 304,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700267.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514903.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911094"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 423,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700268.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514904.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911095"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 463,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700269.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514905.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911096"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 403,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700270.1:n.387_403delinsTTGGCCACCCTGAGCCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911097"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 403,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700271.1:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514906.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911098"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 541,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700272.1:c.*75_*91delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514907.1:n.*75_*91delinsTTGGCCACCCTGAGCCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911099"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 443,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700273.1:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514908.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911100"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 413,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700302.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514929.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911127"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 401,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700303.1:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514930.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911128"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 535,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700304.1:c.*75_*91delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514931.1:n.*75_*91delinsTTGGCCACCCTGAGCCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911129"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 393,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700305.1:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514932.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911130"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 436,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700306.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514933.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911131"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 389,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700307.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514934.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911132"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 497,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700308.1:c.*75_*91delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514935.1:n.*75_*91delinsTTGGCCACCCTGAGCCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911133"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 582,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700309.1:c.*220_*236delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514936.1:n.*220_*236delinsTTGGCCACCCTGAGCCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911134"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 347,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700310.1:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514937.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911135"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 400,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700311.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514938.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911136"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 259,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700312.1:c.-119_-103delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514939.1:n.-119_-103delinsTTGGCCACCCTGAGCCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911137"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 384,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700313.1:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514940.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911138"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 445,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700314.1:c.*70_*86delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514941.1:n.*70_*86delinsTTGGCCACCCTGAGCCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911139"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 359,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700315.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514942.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911140"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 451,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700316.1:c.223_239delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514943.1:p.Leu75="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911141"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 327,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700317.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514944.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911142"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 359,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700318.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514945.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911143"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 359,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700319.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514946.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911144"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 359,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700320.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514947.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911145"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 361,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700321.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514948.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911146"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 313,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700322.1:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514949.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911147"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 403,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700323.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514950.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911148"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 365,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700324.1:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514951.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911149"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 422,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700375.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514966.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911167"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 731,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700376.1:n.715_731delinsTTGGCCACCCTGAGCCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911168"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 743,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700377.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514967.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911169"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 743,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700378.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514968.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911170"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 545,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700379.1:n.529_545delinsTTGGCCACCCTGAGCCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911171"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 394,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700388.1:n.378_394delinsTTGGCCACCCTGAGCCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911173"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 547,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700389.1:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514970.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911174"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 1858,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700390.1:n.1842_1858delinsTTGGCCACCCTGAGCCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911175"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 1030,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700404.1:n.1014_1030delinsTTGGCCACCCTGAGCCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911189"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 412,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700430.1:c.*75_*91delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514985.1:n.*75_*91delinsTTGGCCACCCTGAGCCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911211"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 270,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700431.1:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514986.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911212"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 504,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700432.1:n.488_504delinsTTGGCCACCCTGAGCCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911213"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 282,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700433.1:n.266_282delinsTTGGCCACCCTGAGCCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911214"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 400,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700434.1:n.384_400delinsTTGGCCACCCTGAGCCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911215"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 282,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700435.1:n.266_282delinsTTGGCCACCCTGAGCCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911216"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 282,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700436.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514987.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911217"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 274,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700437.1:c.-119_-103delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514988.1:n.-119_-103delinsTTGGCCACCCTGAGCCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911218"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 282,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700467.1:n.266_282delinsTTGGCCACCCTGAGCCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911227"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 270,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700468.1:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515001.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911228"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 276,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700469.1:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515002.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911229"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 359,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000324501.10:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326366.5:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746639",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324501.10:c.131_147delinsTTGGCCACCCTGAGCCA"
          },
          "RefSeq": {
            "hgvs": "NM_000021.4:c.131_147delinsTTGGCCACCCTGAGCCA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326366.5:p.Leu44="
          },
          "RefSeq": {
            "hgvs": "NP_000012.1:p.Leu44="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 419,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000324501.9:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326366.5:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258358"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 407,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000357710.8:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350342.4:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264203"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 419,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000394157.7:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377712.3:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276015"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 677,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000394164.5:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377719.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276020"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 1693,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000406768.1:c.-146_-130delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385948.1:n.-146_-130delinsTTGGCCACCCTGAGCCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280729"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 544,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553447.6:n.528_544delinsTTGGCCACCCTGAGCCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369866"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 451,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553599.5:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452477.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369986"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 406,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553719.5:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451674.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370080"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 147,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553855.5:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452242.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370182"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 411,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000554131.5:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451915.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370399"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 434,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555254.5:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450652.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371296"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 135,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555386.5:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450845.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371393"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 573,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556066.1:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452267.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371932"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 408,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556533.5:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452128.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372298"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 518,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556864.5:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451588.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372557"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 414,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556951.5:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450551.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372623"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 502,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557037.5:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451347.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372696"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 425,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557293.5:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451880.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372909"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 301,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557356.5:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451498.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372957"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 147,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557511.5:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451429.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373091"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 462,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000559361.5:c.*75_*91delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454156.1:n.*75_*91delinsTTGGCCACCCTGAGCCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374522"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 505,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000560005.6:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453466.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375024"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 431,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_000021.3:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000012.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006086"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 419,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_007318.2:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_015557.2:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032224"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 425,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267864.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267921.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065537"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 414,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267866.1:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267923.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065538"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 323,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536971.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535273.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103942"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 687,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536972.1:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535274.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103943"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 675,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536973.1:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535275.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103944"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 316,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536974.1:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535276.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103945"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 417,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267864.3:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267921.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536476"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 414,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267866.2:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267923.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536477"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 687,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536972.2:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535274.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552699"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 675,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536973.2:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535275.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552700"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 311,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536974.2:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535276.1:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552701"
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 359,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_000021.4:c.131_147delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000012.1:p.Leu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324501.10:c.131_147delinsTTGGCCACCCTGAGCCA"
          },
          "RefSeq": {
            "hgvs": "NM_000021.4:c.131_147delinsTTGGCCACCCTGAGCCA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326366.5:p.Leu44="
          },
          "RefSeq": {
            "hgvs": "NP_000012.1:p.Leu44="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TTGGCCACCCTGAGCCA",
          "end": 347,
          "referenceAllele": "TTGGCCACCCTGAGCCA",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_007318.3:c.119_135delinsTTGGCCACCCTGAGCCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_015557.2:p.Leu40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696969"
    }
  ],
  "type": "nucleotide"
}