{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8669370",
  "communityStandardTitle": [
    "NM_017777.4(MKS1):c.874A>G (p.Lys292Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=256287[alleleid]",
        "alleleId": 256287,
        "preferredName": "NM_017777.4(MKS1):c.874A>G (p.Lys292Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/260888",
        "RCV": [
          "RCV000241612",
          "RCV000725913",
          "RCV001085441",
          "RCV001271771"
        ],
        "variationId": 260888
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-56289780-T-C",
        "id": "17-56289780-T-C",
        "variant": "17:56289780 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.56289780T>C?assembly=hg19",
        "id": "chr17:g.56289780T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.58212419T>C?assembly=hg38",
        "id": "chr17:g.58212419T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201845569",
        "rs": 201845569
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-56289780-T-C?dataset=gnomad_r2_1",
        "id": "17-56289780-T-C",
        "variant": "17:56289780 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-58212419-T-C?dataset=gnomad_r3",
        "id": "17-58212419-T-C",
        "variant": "17:58212419 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-58212419-T-C?dataset=gnomad_r4",
        "id": "17-58212419-T-C",
        "variant": "17:58212419 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 58212419,
          "referenceAllele": "T",
          "start": 58212418
        }
      ],
      "hgvs": [
        "NC_000017.11:g.58212419T>C",
        "CM000679.2:g.58212419T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 56289780,
          "referenceAllele": "T",
          "start": 56289779
        }
      ],
      "hgvs": [
        "NC_000017.10:g.56289780T>C",
        "CM000679.1:g.56289780T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 53644779,
          "referenceAllele": "T",
          "start": 53644778
        }
      ],
      "hgvs": [
        "NC_000017.9:g.53644779T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12187,
          "referenceAllele": "A",
          "start": 12186
        }
      ],
      "hgvs": [
        "NG_013032.1:g.12187A>G",
        "LRG_687:g.12187A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002676"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 899,
          "referenceAllele": "A",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000313863.11:c.874A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316631.6:p.Lys292Glu",
        "hgvsWellDefined": "ENSP00000316631.6:p.Lys292Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745890"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 899,
          "referenceAllele": "A",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000393119.7:c.874A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376827.2:p.Lys292Glu",
        "hgvsWellDefined": "ENSP00000376827.2:p.Lys292Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393119.7:c.874A>G"
          },
          "RefSeq": {
            "hgvs": "NM_017777.4:c.874A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376827.2:p.Lys292Glu"
          },
          "RefSeq": {
            "hgvs": "NP_060247.2:p.Lys292Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "referenceAllele": "A",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000537529.7:c.445A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442096.3:p.Lys149Glu",
        "hgvsWellDefined": "ENSP00000442096.3:p.Lys149Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 899,
          "referenceAllele": "A",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000580127.6:c.874A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462423.2:p.Lys292Glu",
        "hgvsWellDefined": "ENSP00000462423.2:p.Lys292Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760873"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 899,
          "referenceAllele": "A",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000581761.6:c.874A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462129.2:p.Lys292Glu",
        "hgvsWellDefined": "ENSP00000462129.2:p.Lys292Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760911"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 899,
          "referenceAllele": "A",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000585134.2:c.874A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463826.2:p.Lys292Glu",
        "hgvsWellDefined": "ENSP00000463826.2:p.Lys292Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 959,
          "referenceAllele": "A",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000675753.2:c.*493A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502156.1:n.*493A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "referenceAllele": "A",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000676787.1:c.745A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503999.1:p.Lys249Glu",
        "hgvsWellDefined": "ENSP00000503999.1:p.Lys249Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 739,
          "referenceAllele": "A",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000676975.1:c.739A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503970.1:n.739A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2148,
          "referenceAllele": "A",
          "start": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677076.1:n.2148A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 899,
          "referenceAllele": "A",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677111.1:c.874A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504282.1:p.Lys292Glu",
        "hgvsWellDefined": "ENSP00000504282.1:p.Lys292Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2148,
          "referenceAllele": "A",
          "start": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677160.1:n.2148A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 899,
          "referenceAllele": "A",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677416.1:n.899A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777078"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2825,
          "referenceAllele": "A",
          "start": 2824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677475.1:n.2825A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777137"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 516,
          "referenceAllele": "A",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677486.1:c.*218A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503852.1:n.*218A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 672,
          "referenceAllele": "A",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677546.1:c.*218A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504043.1:n.*218A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 899,
          "referenceAllele": "A",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677709.1:n.899A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 899,
          "referenceAllele": "A",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678011.1:n.899A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777661"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3470,
          "referenceAllele": "A",
          "start": 3469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678211.1:n.3470A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777860"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 959,
          "referenceAllele": "A",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678432.1:c.*493A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504452.1:n.*493A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778078"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 899,
          "referenceAllele": "A",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678463.1:c.874A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502984.1:p.Lys292Glu",
        "hgvsWellDefined": "ENSP00000502984.1:p.Lys292Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778108"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "referenceAllele": "A",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678481.1:n.675A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 662,
          "referenceAllele": "A",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678568.1:c.*281A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504754.1:n.*281A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778209"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 672,
          "referenceAllele": "A",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678641.1:c.*218A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503159.1:n.*218A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778281"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2501,
          "referenceAllele": "A",
          "start": 2500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678928.1:n.2501A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778565"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3437,
          "referenceAllele": "A",
          "start": 3436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000679081.1:n.3437A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778716"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 876,
          "referenceAllele": "A",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000313863.10:c.874A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316631.6:p.Lys292Glu",
        "hgvsWellDefined": "ENSP00000316631.6:p.Lys292Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256877"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 949,
          "referenceAllele": "A",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000393119.6:c.874A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376827.2:p.Lys292Glu",
        "hgvsWellDefined": "ENSP00000376827.2:p.Lys292Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275464"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 782,
          "referenceAllele": "A",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000393120.6:c.*281A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376828.2:n.*281A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275465"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "referenceAllele": "A",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000537529.6:c.844A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442096.2:p.Lys282Glu",
        "hgvsWellDefined": "ENSP00000442096.2:p.Lys282Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 351,
          "referenceAllele": "A",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000577824.5:c.351A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385058"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 662,
          "referenceAllele": "A",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000581761.5:c.*281A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462129.1:n.*281A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386946"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 97,
          "referenceAllele": "A",
          "start": 96
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000585134.1:c.97A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463826.1:p.Lys33Glu",
        "hgvsWellDefined": "ENSP00000463826.1:p.Lys33Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "referenceAllele": "A",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001165927.1:c.844A>G",
        "LRG_687t2:c.844A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159399.1:p.Lys282Glu",
        "hgvsWellDefined": "NP_001159399.1:p.Lys282Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014730"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645413862",
      "coordinates": [
        {
          "allele": "G",
          "end": 949,
          "referenceAllele": "A",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_017777.3:c.874A>G",
        "LRG_687t1:c.874A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060247.2:p.Lys292Glu",
        "hgvsWellDefined": "NP_060247.2:p.Lys292Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 935,
          "referenceAllele": "A",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257483.3:c.874A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257540.1:p.Lys292Glu",
        "hgvsWellDefined": "XP_005257540.1:p.Lys292Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061722"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 930,
          "referenceAllele": "A",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257485.3:c.445A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257542.1:p.Lys149Glu",
        "hgvsWellDefined": "XP_005257542.1:p.Lys149Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "referenceAllele": "A",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257486.3:c.265A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257543.1:p.Lys89Glu",
        "hgvsWellDefined": "XP_005257543.1:p.Lys89Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "referenceAllele": "A",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_006721965.2:c.265A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722028.1:p.Lys89Glu",
        "hgvsWellDefined": "XP_006722028.1:p.Lys89Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 931,
          "referenceAllele": "A",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524957.1:c.883A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523259.1:p.Lys295Glu",
        "hgvsWellDefined": "XP_011523259.1:p.Lys295Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092076"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 931,
          "referenceAllele": "A",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524958.1:c.883A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523260.1:p.Lys295Glu",
        "hgvsWellDefined": "XP_011523260.1:p.Lys295Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092077"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 931,
          "referenceAllele": "A",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524959.1:c.883A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523261.1:p.Lys295Glu",
        "hgvsWellDefined": "XP_011523261.1:p.Lys295Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092078"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 931,
          "referenceAllele": "A",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524960.1:c.883A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523262.1:p.Lys295Glu",
        "hgvsWellDefined": "XP_011523262.1:p.Lys295Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092079"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 931,
          "referenceAllele": "A",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XR_934494.1:n.931A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024950",
      "coordinates": [
        {
          "allele": "G",
          "end": 851,
          "referenceAllele": "A",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321268.1:c.265A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308197.1:p.Lys89Glu",
        "hgvsWellDefined": "NP_001308197.1:p.Lys89Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827091430",
      "coordinates": [
        {
          "allele": "G",
          "end": 949,
          "referenceAllele": "A",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321269.1:c.874A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308198.1:p.Lys292Glu",
        "hgvsWellDefined": "NP_001308198.1:p.Lys292Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827310944",
      "coordinates": [
        {
          "allele": "G",
          "end": 949,
          "referenceAllele": "A",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001330397.1:c.874A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317326.1:p.Lys292Glu",
        "hgvsWellDefined": "NP_001317326.1:p.Lys292Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516778"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 963,
          "referenceAllele": "A",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257485.4:c.445A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257542.1:p.Lys149Glu",
        "hgvsWellDefined": "XP_005257542.1:p.Lys149Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534667"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 805,
          "referenceAllele": "A",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_006721965.3:c.265A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722028.1:p.Lys89Glu",
        "hgvsWellDefined": "XP_006722028.1:p.Lys89Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540431"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 929,
          "referenceAllele": "A",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524957.2:c.883A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523259.1:p.Lys295Glu",
        "hgvsWellDefined": "XP_011523259.1:p.Lys295Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 929,
          "referenceAllele": "A",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524958.2:c.883A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523260.1:p.Lys295Glu",
        "hgvsWellDefined": "XP_011523260.1:p.Lys295Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 928,
          "referenceAllele": "A",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524959.2:c.883A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523261.1:p.Lys295Glu",
        "hgvsWellDefined": "XP_011523261.1:p.Lys295Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 928,
          "referenceAllele": "A",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524960.2:c.883A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523262.1:p.Lys295Glu",
        "hgvsWellDefined": "XP_011523262.1:p.Lys295Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547673"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 919,
          "referenceAllele": "A",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_017024804.2:c.874A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880293.1:p.Lys292Glu",
        "hgvsWellDefined": "XP_016880293.1:p.Lys292Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575279"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 963,
          "referenceAllele": "A",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_017024805.1:c.445A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880294.1:p.Lys149Glu",
        "hgvsWellDefined": "XP_016880294.1:p.Lys149Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 928,
          "referenceAllele": "A",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XR_002958042.1:n.928A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024950",
      "coordinates": [
        {
          "allele": "G",
          "end": 801,
          "referenceAllele": "A",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321268.2:c.265A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308197.1:p.Lys89Glu",
        "hgvsWellDefined": "NP_001308197.1:p.Lys89Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685282"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827091430",
      "coordinates": [
        {
          "allele": "G",
          "end": 899,
          "referenceAllele": "A",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321269.2:c.874A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308198.1:p.Lys292Glu",
        "hgvsWellDefined": "NP_001308198.1:p.Lys292Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827310944",
      "coordinates": [
        {
          "allele": "G",
          "end": 899,
          "referenceAllele": "A",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001330397.2:c.874A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317326.1:p.Lys292Glu",
        "hgvsWellDefined": "NP_001317326.1:p.Lys292Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645413862",
      "coordinates": [
        {
          "allele": "G",
          "end": 899,
          "referenceAllele": "A",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_017777.4:c.874A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060247.2:p.Lys292Glu",
        "hgvsWellDefined": "NP_060247.2:p.Lys292Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393119.7:c.874A>G"
          },
          "RefSeq": {
            "hgvs": "NM_017777.4:c.874A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376827.2:p.Lys292Glu"
          },
          "RefSeq": {
            "hgvs": "NP_060247.2:p.Lys292Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}