{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA251429",
  "communityStandardTitle": [
    "NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15367[alleleid]",
        "alleleId": 15367,
        "preferredName": "NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/328",
        "RCV": [
          "RCV000000356",
          "RCV000235652",
          "RCV000789098",
          "RCV003447062"
        ],
        "variationId": 328
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.16477845G>C?assembly=hg19",
        "id": "chr5:g.16477845G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.16477736G>C?assembly=hg38",
        "id": "chr5:g.16477736G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852739",
        "rs": 137852739
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-16477736-G-C?dataset=gnomad_r4",
        "id": "5-16477736-G-C",
        "variant": "5:16477736 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 16477736,
          "referenceAllele": "G",
          "start": 16477735
        }
      ],
      "hgvs": [
        "NC_000005.10:g.16477736G>C",
        "CM000667.2:g.16477736G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 16477845,
          "referenceAllele": "G",
          "start": 16477844
        }
      ],
      "hgvs": [
        "NC_000005.9:g.16477845G>C",
        "CM000667.1:g.16477845G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 16530845,
          "referenceAllele": "G",
          "start": 16530844
        }
      ],
      "hgvs": [
        "NC_000005.8:g.16530845G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 144274,
          "referenceAllele": "C",
          "start": 144273
        }
      ],
      "hgvs": [
        "NG_016644.2:g.144274C>G",
        "LRG_363:g.144274C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003242"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000509977.2:n.574C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000510362.6:c.401C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425089.2:p.Ser134Ter",
        "hgvsWellDefined": "ENSP00000425089.2:p.Ser134_His322delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825566"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 126,
          "endIntronDirection": "-",
          "endIntronOffset": 2501,
          "referenceAllele": "C",
          "start": 126,
          "startIntronDirection": "-",
          "startIntronOffset": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000682033.1:c.127-2502C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 799,
          "referenceAllele": "C",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000682142.1:c.623C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506804.1:p.Ser208Ter",
        "hgvsWellDefined": "ENSP00000506804.1:p.Ser208_His396delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000682229.1:c.1082C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507342.1:p.Ser361Ter",
        "hgvsWellDefined": "ENSP00000507342.1:p.Ser361_His549delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 946,
          "referenceAllele": "C",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000682564.1:c.923C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508099.1:p.Ser308Ter",
        "hgvsWellDefined": "ENSP00000508099.1:p.Ser308_His496delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 545,
          "referenceAllele": "C",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000682628.1:c.401C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507536.1:p.Ser134Ter",
        "hgvsWellDefined": "ENSP00000507536.1:p.Ser134_His322delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1700,
          "referenceAllele": "C",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000682982.1:n.1700C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827969"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5470,
          "referenceAllele": "C",
          "start": 5469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000683045.1:n.5470C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 592,
          "referenceAllele": "C",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000683130.1:c.*172C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507709.1:n.*172C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1425,
          "referenceAllele": "C",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000683169.1:n.1425C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 729,
          "referenceAllele": "C",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000683414.1:c.401C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508335.1:p.Ser134Ter",
        "hgvsWellDefined": "ENSP00000508335.1:p.Ser134_His322delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000683527.1:c.*225C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507253.1:n.*225C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828501"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000683539.1:c.401C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507466.1:p.Ser134Ter",
        "hgvsWellDefined": "ENSP00000507466.1:p.Ser134_His322delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828513"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 537,
          "referenceAllele": "C",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000684456.1:c.-143C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508060.1:n.-143C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829410"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 918,
          "referenceAllele": "C",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000684521.1:c.788C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507521.1:p.Ser263Ter",
        "hgvsWellDefined": "ENSP00000507521.1:p.Ser263_His451delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3196,
          "referenceAllele": "C",
          "start": 3195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000684695.1:n.3196C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829646"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 952,
          "referenceAllele": "C",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000306320.10:c.926C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304642.9:p.Ser309Ter",
        "hgvsWellDefined": "ENSP00000304642.9:p.Ser309_His497delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745279",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000306320.10:c.926C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001034850.3:c.926C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304642.9:p.Ser309Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001030022.1:p.Ser309Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1013,
          "referenceAllele": "C",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000306320.9:c.926C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304642.9:p.Ser309Ter",
        "hgvsWellDefined": "ENSP00000304642.9:p.Ser309_His497delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255715"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 889,
          "referenceAllele": "C",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000399793.6:c.503C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382691.2:p.Ser168Ter",
        "hgvsWellDefined": "ENSP00000382691.2:p.Ser168_His356delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278803"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000509977.1:n.562C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85,
          "referenceAllele": "C",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "ENST00000510362.5:c.85C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251431",
      "coordinates": [
        {
          "allele": "G",
          "end": 1013,
          "referenceAllele": "C",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "NM_001034850.2:c.926C>G",
        "LRG_363t1:c.926C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030022.1:p.Ser309Ter",
        "hgvsWellDefined": "NP_001030022.1:p.Ser309_His497delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009195"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829926528",
      "coordinates": [
        {
          "allele": "G",
          "end": 889,
          "referenceAllele": "C",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "NM_019000.4:c.503C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_061873.2:p.Ser168Ter",
        "hgvsWellDefined": "NP_061873.2:p.Ser168_His356delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1072,
          "referenceAllele": "C",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "XM_011514053.1:c.1046C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512355.1:p.Ser349Ter",
        "hgvsWellDefined": "XP_011512355.1:p.Ser349_His537delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081279"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "referenceAllele": "C",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "XM_011514054.1:c.623C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512356.1:p.Ser208Ter",
        "hgvsWellDefined": "XP_011512356.1:p.Ser208_His396delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "XM_011514055.1:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512357.1:p.Ser176Ter",
        "hgvsWellDefined": "XP_011512357.1:p.Ser176_His364delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081281"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "XM_011514053.3:c.1046C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512355.1:p.Ser349Ter",
        "hgvsWellDefined": "XP_011512355.1:p.Ser349_His537delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543155"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1023,
          "referenceAllele": "C",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "XM_011514054.2:c.623C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512356.1:p.Ser208Ter",
        "hgvsWellDefined": "XP_011512356.1:p.Ser208_His396delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543156"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "XM_011514055.3:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512357.1:p.Ser176Ter",
        "hgvsWellDefined": "XP_011512357.1:p.Ser176_His364delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543157"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "XM_024446117.1:c.401C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301885.1:p.Ser134Ter",
        "hgvsWellDefined": "XP_024301885.1:p.Ser134_His322delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "XM_024446118.1:c.401C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301886.1:p.Ser134Ter",
        "hgvsWellDefined": "XP_024301886.1:p.Ser134_His322delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579794"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251431",
      "coordinates": [
        {
          "allele": "G",
          "end": 952,
          "referenceAllele": "C",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "NM_001034850.3:c.926C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030022.1:p.Ser309Ter",
        "hgvsWellDefined": "NP_001030022.1:p.Ser309_His497delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711551",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000306320.10:c.926C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001034850.3:c.926C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304642.9:p.Ser309Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001030022.1:p.Ser309Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829926528",
      "coordinates": [
        {
          "allele": "G",
          "end": 889,
          "referenceAllele": "C",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025964",
      "geneNCBI_id": 54463,
      "geneSymbol": "RETREG1",
      "hgvs": [
        "NM_019000.5:c.503C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_061873.2:p.Ser168Ter",
        "hgvsWellDefined": "NP_061873.2:p.Ser168_His356delinsGluValSerTrpThrAspAsnGlyThrPheAsnLeuSerGluGlyTyrThrProGlnThrAspThrSerAspAspLeuAspArgProSerGluGluValPheSerArgAspLeuSerAspPheProSerLeuGluAsnGlyMetGlyThrAsnAspGluAspGluLeuSerLeuGlyLeuProThrGluLeuLysArgLysLysGluGlnLeuAspSerGlyHisArgProSerLysGluThrGlnSerAlaAlaGlyLeuThrLeuProLeuAsnSerAspGlnThrPheHisLeuMetSerAsnLeuAlaGlyAspValIleThrAlaAlaValThrAlaAlaIleLysAspGlnLeuGluGlyValGlnGlnAlaLeuSerGlnAlaAlaProIleProGluGluAspThrAspThrGluGluGlyAspAspPheGluLeuLeuAspGlnSerGluLeuAspGlnIleGluSerGluLeuGlyLeuThrGlnAspGlnGluAlaGluAlaGlnGlnAsnLysLysSerSerGlyPheLeuSerAsnLeuLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728379"
    }
  ],
  "type": "nucleotide"
}