{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401928050",
  "communityStandardTitle": [
    "NM_182978.4(GNAL):c.694G>T (p.Glu232Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.11824986G>T?assembly=hg19",
        "id": "chr18:g.11824986G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.11824987G>T?assembly=hg38",
        "id": "chr18:g.11824987G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398122925",
        "rs": 398122925
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-11824987-G-T?dataset=gnomad_r4",
        "id": "18-11824987-G-T",
        "variant": "18:11824987 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 11824987,
          "referenceAllele": "G",
          "start": 11824986
        }
      ],
      "hgvs": [
        "NC_000018.10:g.11824987G>T",
        "CM000680.2:g.11824987G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 11824986,
          "referenceAllele": "G",
          "start": 11824985
        }
      ],
      "hgvs": [
        "NC_000018.9:g.11824986G>T",
        "CM000680.1:g.11824986G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 11814986,
          "referenceAllele": "G",
          "start": 11814985
        }
      ],
      "hgvs": [
        "NC_000018.8:g.11814986G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 140973,
          "referenceAllele": "G",
          "start": 140972
        }
      ],
      "hgvs": [
        "NG_033866.1:g.140973G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005553"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 994,
          "referenceAllele": "G",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000334049.11:c.694G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334051.5:p.Glu232Ter",
        "hgvsWellDefined": "ENSP00000334051.5:p.Glu232_Leu458delinsTyrGlnLeuIleAspCysAlaGlnTyrPheLeuGluArgIleAspSerValSerLeuValAspTyrThrProThrAspGlnAspLeuLeuArgCysArgValLeuThrSerGlyIlePheGluThrArgPheGlnValAspLysValAsnPheHisMetPheAspValGlyGlyGlnArgAspGluArgArgLysTrpIleGlnCysPheAsnAspValThrAlaIleIleTyrValAlaAlaCysSerSerTyrAsnMetValIleArgGluAspAsnAsnThrAsnArgLeuArgGluSerLeuAspLeuPheGluSerIleTrpAsnAsnArgTrpLeuArgThrIleSerIleIleLeuPheLeuAsnLysGlnAspMetLeuAlaGluLysValLeuAlaGlyLysSerLysIleGluAspTyrPheProGluTyrAlaAsnTyrThrValProGluAspAlaThrProAspAlaGlyGluAspProLysValThrArgAlaLysPhePheIleArgAspLeuPheLeuArgIleSerThrAlaThrGlyAspGlyLysHisTyrCysTyrProHisPheThrCysAlaValAspThrGluAsnIleArgArgValPheAsnAspCysArgAspIleIleGlnArgMetHisLeuLysGlnTyrGluLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000334049.11:c.694G>T"
          },
          "RefSeq": {
            "hgvs": "NM_182978.4:c.694G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000334051.5:p.Glu232Ter"
          },
          "RefSeq": {
            "hgvs": "NP_892023.1:p.Glu232Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "referenceAllele": "G",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000423027.8:c.463G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408489.2:p.Glu155Ter",
        "hgvsWellDefined": "ENSP00000408489.2:p.Glu155_Leu381delinsTyrGlnLeuIleAspCysAlaGlnTyrPheLeuGluArgIleAspSerValSerLeuValAspTyrThrProThrAspGlnAspLeuLeuArgCysArgValLeuThrSerGlyIlePheGluThrArgPheGlnValAspLysValAsnPheHisMetPheAspValGlyGlyGlnArgAspGluArgArgLysTrpIleGlnCysPheAsnAspValThrAlaIleIleTyrValAlaAlaCysSerSerTyrAsnMetValIleArgGluAspAsnAsnThrAsnArgLeuArgGluSerLeuAspLeuPheGluSerIleTrpAsnAsnArgTrpLeuArgThrIleSerIleIleLeuPheLeuAsnLysGlnAspMetLeuAlaGluLysValLeuAlaGlyLysSerLysIleGluAspTyrPheProGluTyrAlaAsnTyrThrValProGluAspAlaThrProAspAlaGlyGluAspProLysValThrArgAlaLysPhePheIleArgAspLeuPheLeuArgIleSerThrAlaThrGlyAspGlyLysHisTyrCysTyrProHisPheThrCysAlaValAspThrGluAsnIleArgArgValPheAsnAspCysArgAspIleIleGlnArgMetHisLeuLysGlnTyrGluLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754956",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423027.8:c.463G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369387.1:c.463G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000408489.2:p.Glu155Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001356316.1:p.Glu155Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "referenceAllele": "G",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000269162.9:c.463G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269162.4:p.Glu155Ter",
        "hgvsWellDefined": "ENSP00000269162.4:p.Glu155_Leu381delinsTyrGlnLeuIleAspCysAlaGlnTyrPheLeuGluArgIleAspSerValSerLeuValAspTyrThrProThrAspGlnAspLeuLeuArgCysArgValLeuThrSerGlyIlePheGluThrArgPheGlnValAspLysValAsnPheHisMetPheAspValGlyGlyGlnArgAspGluArgArgLysTrpIleGlnCysPheAsnAspValThrAlaIleIleTyrValAlaAlaCysSerSerTyrAsnMetValIleArgGluAspAsnAsnThrAsnArgLeuArgGluSerLeuAspLeuPheGluSerIleTrpAsnAsnArgTrpLeuArgThrIleSerIleIleLeuPheLeuAsnLysGlnAspMetLeuAlaGluLysValLeuAlaGlyLysSerLysIleGluAspTyrPheProGluTyrAlaAsnTyrThrValProGluAspAlaThrProAspAlaGlyGluAspProLysValThrArgAlaLysPhePheIleArgAspLeuPheLeuArgIleSerThrAlaThrGlyAspGlyLysHisTyrCysTyrProHisPheThrCysAlaValAspThrGluAsnIleArgArgValPheAsnAspCysArgAspIleIleGlnArgMetHisLeuLysGlnTyrGluLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1302,
          "referenceAllele": "G",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000334049.10:c.694G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334051.5:p.Glu232Ter",
        "hgvsWellDefined": "ENSP00000334051.5:p.Glu232_Leu458delinsTyrGlnLeuIleAspCysAlaGlnTyrPheLeuGluArgIleAspSerValSerLeuValAspTyrThrProThrAspGlnAspLeuLeuArgCysArgValLeuThrSerGlyIlePheGluThrArgPheGlnValAspLysValAsnPheHisMetPheAspValGlyGlyGlnArgAspGluArgArgLysTrpIleGlnCysPheAsnAspValThrAlaIleIleTyrValAlaAlaCysSerSerTyrAsnMetValIleArgGluAspAsnAsnThrAsnArgLeuArgGluSerLeuAspLeuPheGluSerIleTrpAsnAsnArgTrpLeuArgThrIleSerIleIleLeuPheLeuAsnLysGlnAspMetLeuAlaGluLysValLeuAlaGlyLysSerLysIleGluAspTyrPheProGluTyrAlaAsnTyrThrValProGluAspAlaThrProAspAlaGlyGluAspProLysValThrArgAlaLysPhePheIleArgAspLeuPheLeuArgIleSerThrAlaThrGlyAspGlyLysHisTyrCysTyrProHisPheThrCysAlaValAspThrGluAsnIleArgArgValPheAsnAspCysArgAspIleIleGlnArgMetHisLeuLysGlnTyrGluLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259815"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "G",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000423027.7:c.463G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408489.2:p.Glu155Ter",
        "hgvsWellDefined": "ENSP00000408489.2:p.Glu155_Leu381delinsTyrGlnLeuIleAspCysAlaGlnTyrPheLeuGluArgIleAspSerValSerLeuValAspTyrThrProThrAspGlnAspLeuLeuArgCysArgValLeuThrSerGlyIlePheGluThrArgPheGlnValAspLysValAsnPheHisMetPheAspValGlyGlyGlnArgAspGluArgArgLysTrpIleGlnCysPheAsnAspValThrAlaIleIleTyrValAlaAlaCysSerSerTyrAsnMetValIleArgGluAspAsnAsnThrAsnArgLeuArgGluSerLeuAspLeuPheGluSerIleTrpAsnAsnArgTrpLeuArgThrIleSerIleIleLeuPheLeuAsnLysGlnAspMetLeuAlaGluLysValLeuAlaGlyLysSerLysIleGluAspTyrPheProGluTyrAlaAsnTyrThrValProGluAspAlaThrProAspAlaGlyGluAspProLysValThrArgAlaLysPhePheIleArgAspLeuPheLeuArgIleSerThrAlaThrGlyAspGlyLysHisTyrCysTyrProHisPheThrCysAlaValAspThrGluAsnIleArgArgValPheAsnAspCysArgAspIleIleGlnArgMetHisLeuLysGlnTyrGluLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "referenceAllele": "G",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000535121.5:c.463G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439023.1:p.Glu155Ter",
        "hgvsWellDefined": "ENSP00000439023.1:p.Glu155_Leu381delinsTyrGlnLeuIleAspCysAlaGlnTyrPheLeuGluArgIleAspSerValSerLeuValAspTyrThrProThrAspGlnAspLeuLeuArgCysArgValLeuThrSerGlyIlePheGluThrArgPheGlnValAspLysValAsnPheHisMetPheAspValGlyGlyGlnArgAspGluArgArgLysTrpIleGlnCysPheAsnAspValThrAlaIleIleTyrValAlaAlaCysSerSerTyrAsnMetValIleArgGluAspAsnAsnThrAsnArgLeuArgGluSerLeuAspLeuPheGluSerIleTrpAsnAsnArgTrpLeuArgThrIleSerIleIleLeuPheLeuAsnLysGlnAspMetLeuAlaGluLysValLeuAlaGlyLysSerLysIleGluAspTyrPheProGluTyrAlaAsnTyrThrValProGluAspAlaThrProAspAlaGlyGluAspProLysValThrArgAlaLysPhePheIleArgAspLeuPheLeuArgIleSerThrAlaThrGlyAspGlyLysHisTyrCysTyrProHisPheThrCysAlaValAspThrGluAsnIleArgArgValPheAsnAspCysArgAspIleIleGlnArgMetHisLeuLysGlnTyrGluLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 365,
          "referenceAllele": "G",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000585642.5:c.280G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467345.1:p.Glu94Ter",
        "hgvsWellDefined": "ENSP00000467345.1:p.Glu94Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 325,
          "referenceAllele": "G",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000590228.1:c.175G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467709.1:p.Glu59Ter",
        "hgvsWellDefined": "ENSP00000467709.1:p.Glu59_Asn145del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 287,
          "referenceAllele": "G",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "ENST00000590972.1:n.287G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 800,
          "referenceAllele": "G",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_001142339.2:c.463G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135811.1:p.Glu155Ter",
        "hgvsWellDefined": "NP_001135811.1:p.Glu155_Leu381delinsTyrGlnLeuIleAspCysAlaGlnTyrPheLeuGluArgIleAspSerValSerLeuValAspTyrThrProThrAspGlnAspLeuLeuArgCysArgValLeuThrSerGlyIlePheGluThrArgPheGlnValAspLysValAsnPheHisMetPheAspValGlyGlyGlnArgAspGluArgArgLysTrpIleGlnCysPheAsnAspValThrAlaIleIleTyrValAlaAlaCysSerSerTyrAsnMetValIleArgGluAspAsnAsnThrAsnArgLeuArgGluSerLeuAspLeuPheGluSerIleTrpAsnAsnArgTrpLeuArgThrIleSerIleIleLeuPheLeuAsnLysGlnAspMetLeuAlaGluLysValLeuAlaGlyLysSerLysIleGluAspTyrPheProGluTyrAlaAsnTyrThrValProGluAspAlaThrProAspAlaGlyGluAspProLysValThrArgAlaLysPhePheIleArgAspLeuPheLeuArgIleSerThrAlaThrGlyAspGlyLysHisTyrCysTyrProHisPheThrCysAlaValAspThrGluAsnIleArgArgValPheAsnAspCysArgAspIleIleGlnArgMetHisLeuLysGlnTyrGluLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "referenceAllele": "G",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_001261443.1:c.463G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248372.1:p.Glu155Ter",
        "hgvsWellDefined": "NP_001248372.1:p.Glu155_Leu381delinsTyrGlnLeuIleAspCysAlaGlnTyrPheLeuGluArgIleAspSerValSerLeuValAspTyrThrProThrAspGlnAspLeuLeuArgCysArgValLeuThrSerGlyIlePheGluThrArgPheGlnValAspLysValAsnPheHisMetPheAspValGlyGlyGlnArgAspGluArgArgLysTrpIleGlnCysPheAsnAspValThrAlaIleIleTyrValAlaAlaCysSerSerTyrAsnMetValIleArgGluAspAsnAsnThrAsnArgLeuArgGluSerLeuAspLeuPheGluSerIleTrpAsnAsnArgTrpLeuArgThrIleSerIleIleLeuPheLeuAsnLysGlnAspMetLeuAlaGluLysValLeuAlaGlyLysSerLysIleGluAspTyrPheProGluTyrAlaAsnTyrThrValProGluAspAlaThrProAspAlaGlyGluAspProLysValThrArgAlaLysPhePheIleArgAspLeuPheLeuArgIleSerThrAlaThrGlyAspGlyLysHisTyrCysTyrProHisPheThrCysAlaValAspThrGluAsnIleArgArgValPheAsnAspCysArgAspIleIleGlnArgMetHisLeuLysGlnTyrGluLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019981"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085477899",
      "coordinates": [
        {
          "allele": "T",
          "end": 1243,
          "referenceAllele": "G",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_182978.3:c.694G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_892023.1:p.Glu232Ter",
        "hgvsWellDefined": "NP_892023.1:p.Glu232_Leu458delinsTyrGlnLeuIleAspCysAlaGlnTyrPheLeuGluArgIleAspSerValSerLeuValAspTyrThrProThrAspGlnAspLeuLeuArgCysArgValLeuThrSerGlyIlePheGluThrArgPheGlnValAspLysValAsnPheHisMetPheAspValGlyGlyGlnArgAspGluArgArgLysTrpIleGlnCysPheAsnAspValThrAlaIleIleTyrValAlaAlaCysSerSerTyrAsnMetValIleArgGluAspAsnAsnThrAsnArgLeuArgGluSerLeuAspLeuPheGluSerIleTrpAsnAsnArgTrpLeuArgThrIleSerIleIleLeuPheLeuAsnLysGlnAspMetLeuAlaGluLysValLeuAlaGlyLysSerLysIleGluAspTyrPheProGluTyrAlaAsnTyrThrValProGluAspAlaThrProAspAlaGlyGluAspProLysValThrArgAlaLysPhePheIleArgAspLeuPheLeuArgIleSerThrAlaThrGlyAspGlyLysHisTyrCysTyrProHisPheThrCysAlaValAspThrGluAsnIleArgArgValPheAsnAspCysArgAspIleIleGlnArgMetHisLeuLysGlnTyrGluLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "referenceAllele": "G",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "XM_006722323.2:c.463G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722386.1:p.Glu155Ter",
        "hgvsWellDefined": "XP_006722386.1:p.Glu155_Leu381delinsTyrGlnLeuIleAspCysAlaGlnTyrPheLeuGluArgIleAspSerValSerLeuValAspTyrThrProThrAspGlnAspLeuLeuArgCysArgValLeuThrSerGlyIlePheGluThrArgPheGlnValAspLysValAsnPheHisMetPheAspValGlyGlyGlnArgAspGluArgArgLysTrpIleGlnCysPheAsnAspValThrAlaIleIleTyrValAlaAlaCysSerSerTyrAsnMetValIleArgGluAspAsnAsnThrAsnArgLeuArgGluSerLeuAspLeuPheGluSerIleTrpAsnAsnArgTrpLeuArgThrIleSerIleIleLeuPheLeuAsnLysGlnAspMetLeuAlaGluLysValLeuAlaGlyLysSerLysIleGluAspTyrPheProGluTyrAlaAsnTyrThrValProGluAspAlaThrProAspAlaGlyGluAspProLysValThrArgAlaLysPhePheIleArgAspLeuPheLeuArgIleSerThrAlaThrGlyAspGlyLysHisTyrCysTyrProHisPheThrCysAlaValAspThrGluAsnIleArgArgValPheAsnAspCysArgAspIleIleGlnArgMetHisLeuLysGlnTyrGluLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074511"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "XM_006722324.1:c.694G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722387.1:p.Glu232Ter",
        "hgvsWellDefined": "XP_006722387.1:p.Glu232_Gln240delinsTyrGlnLeuIleAspCysAlaGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074512"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 767,
          "referenceAllele": "G",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "XM_011525654.1:c.463G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523956.1:p.Glu155Ter",
        "hgvsWellDefined": "XP_011523956.1:p.Glu155_Leu381delinsTyrGlnLeuIleAspCysAlaGlnTyrPheLeuGluArgIleAspSerValSerLeuValAspTyrThrProThrAspGlnAspLeuLeuArgCysArgValLeuThrSerGlyIlePheGluThrArgPheGlnValAspLysValAsnPheHisMetPheAspValGlyGlyGlnArgAspGluArgArgLysTrpIleGlnCysPheAsnAspValThrAlaIleIleTyrValAlaAlaCysSerSerTyrAsnMetValIleArgGluAspAsnAsnThrAsnArgLeuArgGluSerLeuAspLeuPheGluSerIleTrpAsnAsnArgTrpLeuArgThrIleSerIleIleLeuPheLeuAsnLysGlnAspMetLeuAlaGluLysValLeuAlaGlyLysSerLysIleGluAspTyrPheProGluTyrAlaAsnTyrThrValProGluAspAlaThrProAspAlaGlyGluAspProLysValThrArgAlaLysPhePheIleArgAspLeuPheLeuArgIleSerThrAlaThrGlyAspGlyLysHisTyrCysTyrProHisPheThrCysAlaValAspThrGluAsnIleArgArgValPheAsnAspCysArgAspIleIleGlnArgMetHisLeuLysGlnTyrGluLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1243,
          "referenceAllele": "G",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "XM_006722324.3:c.694G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722387.1:p.Glu232Ter",
        "hgvsWellDefined": "XP_006722387.1:p.Glu232_Gln240delinsTyrGlnLeuIleAspCysAlaGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540513"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1281,
          "referenceAllele": "G",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "XM_024451164.1:c.463G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306932.1:p.Glu155Ter",
        "hgvsWellDefined": "XP_024306932.1:p.Glu155_Leu381delinsTyrGlnLeuIleAspCysAlaGlnTyrPheLeuGluArgIleAspSerValSerLeuValAspTyrThrProThrAspGlnAspLeuLeuArgCysArgValLeuThrSerGlyIlePheGluThrArgPheGlnValAspLysValAsnPheHisMetPheAspValGlyGlyGlnArgAspGluArgArgLysTrpIleGlnCysPheAsnAspValThrAlaIleIleTyrValAlaAlaCysSerSerTyrAsnMetValIleArgGluAspAsnAsnThrAsnArgLeuArgGluSerLeuAspLeuPheGluSerIleTrpAsnAsnArgTrpLeuArgThrIleSerIleIleLeuPheLeuAsnLysGlnAspMetLeuAlaGluLysValLeuAlaGlyLysSerLysIleGluAspTyrPheProGluTyrAlaAsnTyrThrValProGluAspAlaThrProAspAlaGlyGluAspProLysValThrArgAlaLysPhePheIleArgAspLeuPheLeuArgIleSerThrAlaThrGlyAspGlyLysHisTyrCysTyrProHisPheThrCysAlaValAspThrGluAsnIleArgArgValPheAsnAspCysArgAspIleIleGlnArgMetHisLeuLysGlnTyrGluLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085477899",
      "coordinates": [
        {
          "allele": "T",
          "end": 994,
          "referenceAllele": "G",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_182978.4:c.694G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_892023.1:p.Glu232Ter",
        "hgvsWellDefined": "NP_892023.1:p.Glu232_Leu458delinsTyrGlnLeuIleAspCysAlaGlnTyrPheLeuGluArgIleAspSerValSerLeuValAspTyrThrProThrAspGlnAspLeuLeuArgCysArgValLeuThrSerGlyIlePheGluThrArgPheGlnValAspLysValAsnPheHisMetPheAspValGlyGlyGlnArgAspGluArgArgLysTrpIleGlnCysPheAsnAspValThrAlaIleIleTyrValAlaAlaCysSerSerTyrAsnMetValIleArgGluAspAsnAsnThrAsnArgLeuArgGluSerLeuAspLeuPheGluSerIleTrpAsnAsnArgTrpLeuArgThrIleSerIleIleLeuPheLeuAsnLysGlnAspMetLeuAlaGluLysValLeuAlaGlyLysSerLysIleGluAspTyrPheProGluTyrAlaAsnTyrThrValProGluAspAlaThrProAspAlaGlyGluAspProLysValThrArgAlaLysPhePheIleArgAspLeuPheLeuArgIleSerThrAlaThrGlyAspGlyLysHisTyrCysTyrProHisPheThrCysAlaValAspThrGluAsnIleArgArgValPheAsnAspCysArgAspIleIleGlnArgMetHisLeuLysGlnTyrGluLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673042",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000334049.11:c.694G>T"
          },
          "RefSeq": {
            "hgvs": "NM_182978.4:c.694G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000334051.5:p.Glu232Ter"
          },
          "RefSeq": {
            "hgvs": "NP_892023.1:p.Glu232Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "referenceAllele": "G",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_001369387.1:c.463G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356316.1:p.Glu155Ter",
        "hgvsWellDefined": "NP_001356316.1:p.Glu155_Leu381delinsTyrGlnLeuIleAspCysAlaGlnTyrPheLeuGluArgIleAspSerValSerLeuValAspTyrThrProThrAspGlnAspLeuLeuArgCysArgValLeuThrSerGlyIlePheGluThrArgPheGlnValAspLysValAsnPheHisMetPheAspValGlyGlyGlnArgAspGluArgArgLysTrpIleGlnCysPheAsnAspValThrAlaIleIleTyrValAlaAlaCysSerSerTyrAsnMetValIleArgGluAspAsnAsnThrAsnArgLeuArgGluSerLeuAspLeuPheGluSerIleTrpAsnAsnArgTrpLeuArgThrIleSerIleIleLeuPheLeuAsnLysGlnAspMetLeuAlaGluLysValLeuAlaGlyLysSerLysIleGluAspTyrPheProGluTyrAlaAsnTyrThrValProGluAspAlaThrProAspAlaGlyGluAspProLysValThrArgAlaLysPhePheIleArgAspLeuPheLeuArgIleSerThrAlaThrGlyAspGlyLysHisTyrCysTyrProHisPheThrCysAlaValAspThrGluAsnIleArgArgValPheAsnAspCysArgAspIleIleGlnArgMetHisLeuLysGlnTyrGluLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423027.8:c.463G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369387.1:c.463G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000408489.2:p.Glu155Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001356316.1:p.Glu155Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 679,
          "referenceAllele": "G",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_001142339.3:c.463G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135811.1:p.Glu155Ter",
        "hgvsWellDefined": "NP_001135811.1:p.Glu155_Leu381delinsTyrGlnLeuIleAspCysAlaGlnTyrPheLeuGluArgIleAspSerValSerLeuValAspTyrThrProThrAspGlnAspLeuLeuArgCysArgValLeuThrSerGlyIlePheGluThrArgPheGlnValAspLysValAsnPheHisMetPheAspValGlyGlyGlnArgAspGluArgArgLysTrpIleGlnCysPheAsnAspValThrAlaIleIleTyrValAlaAlaCysSerSerTyrAsnMetValIleArgGluAspAsnAsnThrAsnArgLeuArgGluSerLeuAspLeuPheGluSerIleTrpAsnAsnArgTrpLeuArgThrIleSerIleIleLeuPheLeuAsnLysGlnAspMetLeuAlaGluLysValLeuAlaGlyLysSerLysIleGluAspTyrPheProGluTyrAlaAsnTyrThrValProGluAspAlaThrProAspAlaGlyGluAspProLysValThrArgAlaLysPhePheIleArgAspLeuPheLeuArgIleSerThrAlaThrGlyAspGlyLysHisTyrCysTyrProHisPheThrCysAlaValAspThrGluAsnIleArgArgValPheAsnAspCysArgAspIleIleGlnArgMetHisLeuLysGlnTyrGluLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "referenceAllele": "G",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004388",
      "geneNCBI_id": 2774,
      "geneSymbol": "GNAL",
      "hgvs": [
        "NM_001261443.2:c.463G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248372.1:p.Glu155Ter",
        "hgvsWellDefined": "NP_001248372.1:p.Glu155_Leu381delinsTyrGlnLeuIleAspCysAlaGlnTyrPheLeuGluArgIleAspSerValSerLeuValAspTyrThrProThrAspGlnAspLeuLeuArgCysArgValLeuThrSerGlyIlePheGluThrArgPheGlnValAspLysValAsnPheHisMetPheAspValGlyGlyGlnArgAspGluArgArgLysTrpIleGlnCysPheAsnAspValThrAlaIleIleTyrValAlaAlaCysSerSerTyrAsnMetValIleArgGluAspAsnAsnThrAsnArgLeuArgGluSerLeuAspLeuPheGluSerIleTrpAsnAsnArgTrpLeuArgThrIleSerIleIleLeuPheLeuAsnLysGlnAspMetLeuAlaGluLysValLeuAlaGlyLysSerLysIleGluAspTyrPheProGluTyrAlaAsnTyrThrValProGluAspAlaThrProAspAlaGlyGluAspProLysValThrArgAlaLysPhePheIleArgAspLeuPheLeuArgIleSerThrAlaThrGlyAspGlyLysHisTyrCysTyrProHisPheThrCysAlaValAspThrGluAsnIleArgArgValPheAsnAspCysArgAspIleIleGlnArgMetHisLeuLysGlnTyrGluLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715023"
    }
  ],
  "type": "nucleotide"
}