{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340171654",
  "communityStandardTitle": [
    "NM_017739.4(POMGNT1):c.1651G>T (p.Glu551Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.46655660C>A?assembly=hg19",
        "id": "chr1:g.46655660C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.46189988C>A?assembly=hg38",
        "id": "chr1:g.46189988C>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 46189988,
          "referenceAllele": "C",
          "start": 46189987
        }
      ],
      "hgvs": [
        "NC_000001.11:g.46189988C>A",
        "CM000663.2:g.46189988C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 46655660,
          "referenceAllele": "C",
          "start": 46655659
        }
      ],
      "hgvs": [
        "NC_000001.10:g.46655660C>A",
        "CM000663.1:g.46655660C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 46428247,
          "referenceAllele": "C",
          "start": 46428246
        }
      ],
      "hgvs": [
        "NC_000001.9:g.46428247C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 35318,
          "referenceAllele": "G",
          "start": 35317
        }
      ],
      "hgvs": [
        "NG_009205.2:g.35318G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 35318,
          "referenceAllele": "G",
          "start": 35317
        }
      ],
      "hgvs": [
        "NG_009205.3:g.35318G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733322"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1785,
          "referenceAllele": "G",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000396420.8:c.1651G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379698.4:p.Glu551Ter",
        "hgvsWellDefined": "ENSP00000379698.4:p.Glu551_Thr660delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1823,
          "referenceAllele": "G",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000497439.6:n.1823G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2011,
          "referenceAllele": "G",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000684817.1:n.2011G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2213,
          "referenceAllele": "G",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000684898.1:n.2213G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1732,
          "referenceAllele": "G",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000685230.1:c.*961G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510305.1:n.*961G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2198,
          "referenceAllele": "G",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000685275.1:n.2198G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1720,
          "referenceAllele": "G",
          "start": 1719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000685444.1:c.1552G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510762.1:p.Glu518Ter",
        "hgvsWellDefined": "ENSP00000510762.1:p.Glu518_Thr627delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2317,
          "referenceAllele": "G",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000685704.1:n.2317G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4044,
          "referenceAllele": "G",
          "start": 4043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000685833.1:n.4044G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2725,
          "referenceAllele": "G",
          "start": 2724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000686252.1:n.2725G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1901,
          "referenceAllele": "G",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000686379.1:c.*775G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508913.1:n.*775G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3338,
          "referenceAllele": "G",
          "start": 3337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000686724.1:n.3338G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1853,
          "referenceAllele": "G",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000686737.1:c.1651G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508736.1:p.Glu551Ter",
        "hgvsWellDefined": "ENSP00000508736.1:p.Glu551_Thr660delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2517,
          "referenceAllele": "G",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000687112.1:n.2517G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1862,
          "referenceAllele": "G",
          "start": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000687149.1:c.1690G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509745.1:p.Glu564Ter",
        "hgvsWellDefined": "ENSP00000509745.1:p.Glu564_Thr673delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830933"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1747,
          "referenceAllele": "G",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000687197.1:c.*591G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510749.1:n.*591G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3728,
          "referenceAllele": "G",
          "start": 3727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000687235.1:n.3728G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2291,
          "referenceAllele": "G",
          "start": 2290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000687613.1:n.2291G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1952,
          "referenceAllele": "G",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000687683.1:c.1651G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508522.1:p.Glu551Ter",
        "hgvsWellDefined": "ENSP00000508522.1:p.Glu551_Thr660delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2188,
          "referenceAllele": "G",
          "start": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000688032.1:n.2188G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2302,
          "referenceAllele": "G",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000688596.1:n.2302G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1778,
          "referenceAllele": "G",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000688608.1:c.1552G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508890.1:p.Glu518Ter",
        "hgvsWellDefined": "ENSP00000508890.1:p.Glu518_Thr627delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2103,
          "referenceAllele": "G",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000689031.1:n.2103G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1704,
          "referenceAllele": "G",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000689756.1:c.*1283G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509023.1:n.*1283G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1998,
          "referenceAllele": "G",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000690377.1:n.1998G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1823,
          "referenceAllele": "G",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000690678.1:c.1651G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508703.1:p.Glu551Ter",
        "hgvsWellDefined": "ENSP00000508703.1:p.Glu551_Thr660delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1747,
          "referenceAllele": "G",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000691209.1:c.*591G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510112.1:n.*591G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1798,
          "referenceAllele": "G",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000691243.1:c.*42G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510654.1:n.*42G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2226,
          "referenceAllele": "G",
          "start": 2225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000692202.1:n.2226G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1735,
          "referenceAllele": "G",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000692322.1:c.*1438G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509017.1:n.*1438G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833659"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1823,
          "referenceAllele": "G",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000692369.1:c.1651G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508453.1:p.Glu551Ter",
        "hgvsWellDefined": "ENSP00000508453.1:p.Glu551_Gly718delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3526,
          "referenceAllele": "G",
          "start": 3525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000692599.1:n.3526G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1682,
          "referenceAllele": "G",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000692635.1:c.*526G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508425.1:n.*526G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3427,
          "referenceAllele": "G",
          "start": 3426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000693168.1:n.3427G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2025,
          "referenceAllele": "G",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000693218.1:c.*212G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510577.1:n.*212G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2599,
          "referenceAllele": "G",
          "start": 2598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000693223.1:n.2599G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1800,
          "referenceAllele": "G",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000371984.8:c.1651G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361052.3:p.Glu551Ter",
        "hgvsWellDefined": "ENSP00000361052.3:p.Glu551_Thr660delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750907",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371984.8:c.1651G>T"
          },
          "RefSeq": {
            "hgvs": "NM_017739.4:c.1651G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361052.3:p.Glu551Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060209.4:p.Glu551Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1809,
          "referenceAllele": "G",
          "start": 1808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000371984.7:c.1651G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361052.3:p.Glu551Ter",
        "hgvsWellDefined": "ENSP00000361052.3:p.Glu551_Thr660delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2302,
          "referenceAllele": "G",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000371992.1:c.1651G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361060.1:p.Glu551Ter",
        "hgvsWellDefined": "ENSP00000361060.1:p.Glu551_Gly748delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetSerGluGluAlaThrLeuSerHisProAsnPheProGlyAlaThrProLysGlyGlyGlySerProArgSerProArgThrAspMetArgProProProGlyProCysGlyAlaGlyProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2560,
          "referenceAllele": "G",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000396420.7:c.*1320G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379698.3:n.*1320G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277268"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 300,
          "referenceAllele": "G",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "ENST00000480972.1:n.300G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2302,
          "referenceAllele": "G",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NM_001243766.1:c.1651G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230695.1:p.Glu551Ter",
        "hgvsWellDefined": "NP_001230695.1:p.Glu551_Gly748delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuValSerGluGluAlaThrLeuSerHisProAsnPheProGlyAlaThrProLysGlyGlyGlySerProArgSerProArgThrAspMetArgProProProGlyProCysGlyAlaGlyProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018596"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1723,
          "referenceAllele": "G",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NM_001290129.1:c.1585G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277058.1:p.Glu529Ter",
        "hgvsWellDefined": "NP_001277058.1:p.Glu529_Thr638delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuValValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1689,
          "referenceAllele": "G",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NM_001290130.1:c.1222G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277059.1:p.Glu408Ter",
        "hgvsWellDefined": "NP_001277059.1:p.Glu408_Thr517delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuValValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1815,
          "referenceAllele": "G",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NM_017739.3:c.1651G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060209.3:p.Glu551Ter",
        "hgvsWellDefined": "NP_060209.3:p.Glu551_Thr660delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuValValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1810,
          "referenceAllele": "G",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "XM_005271010.1:c.1651G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271067.1:p.Glu551Ter",
        "hgvsWellDefined": "XP_005271067.1:p.Glu551_Gly718delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1775,
          "referenceAllele": "G",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "XM_006710755.1:c.1651G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710818.1:p.Glu551Ter",
        "hgvsWellDefined": "XP_006710818.1:p.Glu551_Gly718delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068791"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1810,
          "referenceAllele": "G",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "XM_006710756.1:c.1651G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710819.1:p.Glu551Ter",
        "hgvsWellDefined": "XP_006710819.1:p.Glu551_Gly748delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetSerGluGluAlaThrLeuSerHisProAsnPheProGlyAlaThrProLysGlyGlyGlySerProArgSerProArgThrAspMetArgProProProGlyProCysGlyAlaGlyProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068792"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "endIntronDirection": "+",
          "endIntronOffset": 4680,
          "referenceAllele": "C",
          "start": 816,
          "startIntronDirection": "+",
          "startIntronOffset": 4679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020657",
      "geneNCBI_id": 10103,
      "geneSymbol": "TSPAN1",
      "hgvs": [
        "XM_011540460.1:c.678+4680C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538762.1:n.678+4680C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 868,
          "endIntronDirection": "+",
          "endIntronOffset": 4680,
          "referenceAllele": "C",
          "start": 868,
          "startIntronDirection": "+",
          "startIntronOffset": 4679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020657",
      "geneNCBI_id": 10103,
      "geneSymbol": "TSPAN1",
      "hgvs": [
        "XM_011540461.1:c.633+4680C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538763.1:n.633+4680C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1768,
          "referenceAllele": "G",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "XM_011541759.1:c.1585G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540061.1:p.Glu529Ter",
        "hgvsWellDefined": "XP_011540061.1:p.Glu529_Gly696delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1768,
          "referenceAllele": "G",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "XM_011541760.1:c.1585G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540062.1:p.Glu529Ter",
        "hgvsWellDefined": "XP_011540062.1:p.Glu529_Thr638delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 917,
          "referenceAllele": "G",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "XM_011541761.1:c.559G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540063.1:p.Glu187Ter",
        "hgvsWellDefined": "XP_011540063.1:p.Glu187_Gly354delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108696"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1138,
          "endIntronDirection": "+",
          "endIntronOffset": 4680,
          "referenceAllele": "C",
          "start": 1138,
          "startIntronDirection": "+",
          "startIntronOffset": 4679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020657",
      "geneNCBI_id": 10103,
      "geneSymbol": "TSPAN1",
      "hgvs": [
        "XM_011540460.3:c.678+4680C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538762.1:n.678+4680C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1670,
          "referenceAllele": "G",
          "start": 1669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "XM_011541760.3:c.1585G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540062.1:p.Glu529Ter",
        "hgvsWellDefined": "XP_011540062.1:p.Glu529_Thr638delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1775,
          "referenceAllele": "G",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "XM_017001690.1:c.1651G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857179.1:p.Glu551Ter",
        "hgvsWellDefined": "XP_016857179.1:p.Glu551_Thr660delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2302,
          "referenceAllele": "G",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NM_001243766.2:c.1651G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230695.2:p.Glu551Ter",
        "hgvsWellDefined": "NP_001230695.2:p.Glu551_Gly748delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetSerGluGluAlaThrLeuSerHisProAsnPheProGlyAlaThrProLysGlyGlyGlySerProArgSerProArgThrAspMetArgProProProGlyProCysGlyAlaGlyProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1723,
          "referenceAllele": "G",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NM_001290129.2:c.1585G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277058.2:p.Glu529Ter",
        "hgvsWellDefined": "NP_001277058.2:p.Glu529_Thr638delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1689,
          "referenceAllele": "G",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NM_001290130.2:c.1222G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277059.2:p.Glu408Ter",
        "hgvsWellDefined": "NP_001277059.2:p.Glu408_Thr517delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1800,
          "referenceAllele": "G",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NM_017739.4:c.1651G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060209.4:p.Glu551Ter",
        "hgvsWellDefined": "NP_060209.4:p.Glu551_Thr660delinsAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728258",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371984.8:c.1651G>T"
          },
          "RefSeq": {
            "hgvs": "NM_017739.4:c.1651G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361052.3:p.Glu551Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060209.4:p.Glu551Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}