{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042394",
  "communityStandardTitle": [
    "NM_004826.4(ECEL1):c.4G>T (p.Glu2Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359359[alleleid]",
        "alleleId": 359359,
        "preferredName": "NM_004826.4(ECEL1):c.4G>T (p.Glu2Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373060",
        "RCV": [
          "RCV000414469"
        ],
        "variationId": 373060
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.233351360C>A?assembly=hg19",
        "id": "chr2:g.233351360C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.232486650C>A?assembly=hg38",
        "id": "chr2:g.232486650C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518181",
        "rs": 1057518181
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-232486650-C-A?dataset=gnomad_r4",
        "id": "2-232486650-C-A",
        "variant": "2:232486650 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 232486650,
          "referenceAllele": "C",
          "start": 232486649
        }
      ],
      "hgvs": [
        "NC_000002.12:g.232486650C>A",
        "CM000664.2:g.232486650C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 233351360,
          "referenceAllele": "C",
          "start": 233351359
        }
      ],
      "hgvs": [
        "NC_000002.11:g.233351360C>A",
        "CM000664.1:g.233351360C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 233059604,
          "referenceAllele": "C",
          "start": 233059603
        }
      ],
      "hgvs": [
        "NC_000002.10:g.233059604C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6210,
          "referenceAllele": "G",
          "start": 6209
        }
      ],
      "hgvs": [
        "NG_034065.1:g.6210G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005725"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 221,
          "referenceAllele": "G",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "ENST00000304546.6:c.4G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302051.1:p.Glu2Ter",
        "hgvsWellDefined": "ENSP00000302051.1:p.Glu2_Trp775delinsProProTyrSerLeuThrAlaHisTyrAspGluPheGlnGluValLysTyrValSerArgCysGlyAlaGlyGlyAlaArgGlyAlaSerLeuProProGlyPheProLeuGlyAlaAlaArgSerAlaThrGlyAlaArgSerGlyLeuProArgTrpAsnArgArgGluValCysLeuLeuSerGlyLeuValPheAlaAlaGlyLeuCysAlaIleLeuAlaAlaMetLeuAlaLeuLysTyrLeuGlyProValAlaAlaGlyGlyGlyAlaCysProGluGlyCysProGluArgLysAlaPheAlaArgAlaAlaArgPheLeuAlaAlaAsnLeuAspAlaSerIleAspProCysGlnAspPheTyrSerPheAlaCysGlyGlyTrpLeuArgArgHisAlaIleProAspAspLysLeuThrTyrGlyThrIleAlaAlaIleGlyGluGlnAsnGluGluArgLeuArgArgLeuLeuAlaArgProGlyGlyGlyProGlyGlyAlaAlaGlnArgLysValArgAlaPhePheArgSerCysLeuAspMetArgGluIleGluArgLeuGlyProArgProMetLeuGluValIleGluAspCysGlyGlyTrpAspLeuGlyGlyAlaGluGluArgProGlyValAlaAlaArgTrpAspLeuAsnArgLeuLeuTyrLysAlaGlnGlyValTyrSerAlaAlaAlaLeuPheSerLeuThrValSerLeuAspAspArgAsnSerSerArgTyrValIleArgIleAspGlnAspGlyLeuThrLeuProGluArgThrLeuTyrLeuAlaGlnAspGluAspSerGluLysIleLeuAlaAlaTyrArgValPheMetGluArgValLeuSerLeuLeuGlyAlaAspAlaValGluGlnLysAlaGlnGluIleLeuGlnValGluGlnGlnLeuAlaAsnIleThrValSerGluHisAspAspLeuArgArgAspValSerSerMetTyrAsnLysValThrLeuGlyGlnLeuGlnLysIleThrProHisLeuArgTrpLysTrpLeuLeuAspGlnIlePheGlnGluAspPheSerGluGluGluGluValValLeuLeuAlaThrAspTyrMetGlnGlnValSerGlnLeuIleArgSerThrProHisArgValLeuHisAsnTyrLeuValTrpArgValValValValLeuSerGluHisLeuSerProProPheArgGluAlaLeuHisGluLeuAlaGlnGluMetGluGlySerAspLysProGlnGluLeuAlaArgValCysLeuGlyGlnAlaAsnArgHisPheGlyMetAlaLeuGlyAlaLeuPheValHisGluHisPheSerAlaAlaSerLysAlaLysValGlnGlnLeuValGluAspIleLysTyrIleLeuGlyGlnArgLeuGluGluLeuAspTrpMetAspAlaGluThrArgAlaAlaAlaArgAlaLysLeuGlnTyrMetMetValMetValGlyTyrProAspPheLeuLeuLysProAspAlaValAspLysGluTyrGluPheGluValHisGluLysThrTyrPheLysAsnIleLeuAsnSerIleArgPheSerIleGlnLeuSerValLysLysIleArgGlnGluValAspLysSerThrTrpLeuLeuProProGlnAlaLeuAsnAlaTyrTyrLeuProAsnLysAsnGlnMetValPheProAlaGlyIleLeuGlnProThrLeuTyrAspProAspPheProGlnSerLeuAsnTyrGlyGlyIleGlyThrIleIleGlyHisGluLeuThrHisGlyTyrAspAspTrpGlyGlyGlnTyrAspArgSerGlyAsnLeuLeuHisTrpTrpThrGluAlaSerTyrSerArgPheLeuArgLysAlaGluCysIleValArgLeuTyrAspAsnPheThrValTyrAsnGlnArgValAsnGlyLysHisThrLeuGlyGluAsnIleAlaAspMetGlyGlyLeuLysLeuAlaTyrHisAlaTyrGlnLysTrpValArgGluHisGlyProGluHisProLeuProArgLeuLysTyrThrHisAspGlnLeuPhePheIleAlaPheAlaGlnAsnTrpCysIleLysArgArgSerGlnSerIleTyrLeuGlnValLeuThrAspLysHisAlaProGluHisTyrArgValLeuGlySerValSerGlnPheGluGluPheGlyArgAlaPheHisCysProLysAspSerProMetAsnProAlaHisLysCysSerValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745117",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304546.6:c.4G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004826.4:c.4G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302051.1:p.Glu2Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004817.2:p.Glu2Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 215,
          "referenceAllele": "G",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "ENST00000304546.5:c.4G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302051.1:p.Glu2Ter",
        "hgvsWellDefined": "ENSP00000302051.1:p.Glu2_Trp775delinsProProTyrSerLeuThrAlaHisTyrAspGluPheGlnGluValLysTyrValSerArgCysGlyAlaGlyGlyAlaArgGlyAlaSerLeuProProGlyPheProLeuGlyAlaAlaArgSerAlaThrGlyAlaArgSerGlyLeuProArgTrpAsnArgArgGluValCysLeuLeuSerGlyLeuValPheAlaAlaGlyLeuCysAlaIleLeuAlaAlaMetLeuAlaLeuLysTyrLeuGlyProValAlaAlaGlyGlyGlyAlaCysProGluGlyCysProGluArgLysAlaPheAlaArgAlaAlaArgPheLeuAlaAlaAsnLeuAspAlaSerIleAspProCysGlnAspPheTyrSerPheAlaCysGlyGlyTrpLeuArgArgHisAlaIleProAspAspLysLeuThrTyrGlyThrIleAlaAlaIleGlyGluGlnAsnGluGluArgLeuArgArgLeuLeuAlaArgProGlyGlyGlyProGlyGlyAlaAlaGlnArgLysValArgAlaPhePheArgSerCysLeuAspMetArgGluIleGluArgLeuGlyProArgProMetLeuGluValIleGluAspCysGlyGlyTrpAspLeuGlyGlyAlaGluGluArgProGlyValAlaAlaArgTrpAspLeuAsnArgLeuLeuTyrLysAlaGlnGlyValTyrSerAlaAlaAlaLeuPheSerLeuThrValSerLeuAspAspArgAsnSerSerArgTyrValIleArgIleAspGlnAspGlyLeuThrLeuProGluArgThrLeuTyrLeuAlaGlnAspGluAspSerGluLysIleLeuAlaAlaTyrArgValPheMetGluArgValLeuSerLeuLeuGlyAlaAspAlaValGluGlnLysAlaGlnGluIleLeuGlnValGluGlnGlnLeuAlaAsnIleThrValSerGluHisAspAspLeuArgArgAspValSerSerMetTyrAsnLysValThrLeuGlyGlnLeuGlnLysIleThrProHisLeuArgTrpLysTrpLeuLeuAspGlnIlePheGlnGluAspPheSerGluGluGluGluValValLeuLeuAlaThrAspTyrMetGlnGlnValSerGlnLeuIleArgSerThrProHisArgValLeuHisAsnTyrLeuValTrpArgValValValValLeuSerGluHisLeuSerProProPheArgGluAlaLeuHisGluLeuAlaGlnGluMetGluGlySerAspLysProGlnGluLeuAlaArgValCysLeuGlyGlnAlaAsnArgHisPheGlyMetAlaLeuGlyAlaLeuPheValHisGluHisPheSerAlaAlaSerLysAlaLysValGlnGlnLeuValGluAspIleLysTyrIleLeuGlyGlnArgLeuGluGluLeuAspTrpMetAspAlaGluThrArgAlaAlaAlaArgAlaLysLeuGlnTyrMetMetValMetValGlyTyrProAspPheLeuLeuLysProAspAlaValAspLysGluTyrGluPheGluValHisGluLysThrTyrPheLysAsnIleLeuAsnSerIleArgPheSerIleGlnLeuSerValLysLysIleArgGlnGluValAspLysSerThrTrpLeuLeuProProGlnAlaLeuAsnAlaTyrTyrLeuProAsnLysAsnGlnMetValPheProAlaGlyIleLeuGlnProThrLeuTyrAspProAspPheProGlnSerLeuAsnTyrGlyGlyIleGlyThrIleIleGlyHisGluLeuThrHisGlyTyrAspAspTrpGlyGlyGlnTyrAspArgSerGlyAsnLeuLeuHisTrpTrpThrGluAlaSerTyrSerArgPheLeuArgLysAlaGluCysIleValArgLeuTyrAspAsnPheThrValTyrAsnGlnArgValAsnGlyLysHisThrLeuGlyGluAsnIleAlaAspMetGlyGlyLeuLysLeuAlaTyrHisAlaTyrGlnLysTrpValArgGluHisGlyProGluHisProLeuProArgLeuLysTyrThrHisAspGlnLeuPhePheIleAlaPheAlaGlnAsnTrpCysIleLysArgArgSerGlnSerIleTyrLeuGlnValLeuThrAspLysHisAlaProGluHisTyrArgValLeuGlySerValSerGlnPheGluGluPheGlyArgAlaPheHisCysProLysAspSerProMetAsnProAlaHisLysCysSerValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4,
          "referenceAllele": "G",
          "start": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "ENST00000409941.1:c.4G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386333.1:p.Glu2Ter",
        "hgvsWellDefined": "ENSP00000386333.1:p.Glu2_Trp773delinsProProTyrSerLeuThrAlaHisTyrAspGluPheGlnGluValLysTyrValSerArgCysGlyAlaGlyGlyAlaArgGlyAlaSerLeuProProGlyPheProLeuGlyAlaAlaArgSerAlaThrGlyAlaArgSerGlyLeuProArgTrpAsnArgArgGluValCysLeuLeuSerGlyLeuValPheAlaAlaGlyLeuCysAlaIleLeuAlaAlaMetLeuAlaLeuLysTyrLeuGlyProValAlaAlaGlyGlyGlyAlaCysProGluGlyCysProGluArgLysAlaPheAlaArgAlaAlaArgPheLeuAlaAlaAsnLeuAspAlaSerIleAspProCysGlnAspPheTyrSerPheAlaCysGlyGlyTrpLeuArgArgHisAlaIleProAspAspLysLeuThrTyrGlyThrIleAlaAlaIleGlyGluGlnAsnGluGluArgLeuArgArgLeuLeuAlaArgProGlyGlyGlyProGlyGlyAlaAlaGlnArgLysValArgAlaPhePheArgSerCysLeuAspMetArgGluIleGluArgLeuGlyProArgProMetLeuGluValIleGluAspCysGlyGlyTrpAspLeuGlyGlyAlaGluGluArgProGlyValAlaAlaArgTrpAspLeuAsnArgLeuLeuTyrLysAlaGlnGlyValTyrSerAlaAlaAlaLeuPheSerLeuThrValSerLeuAspAspArgAsnSerSerArgTyrValIleArgIleAspGlnAspGlyLeuThrLeuProGluArgThrLeuTyrLeuAlaGlnAspGluAspSerGluLysIleLeuAlaAlaTyrArgValPheMetGluArgValLeuSerLeuLeuGlyAlaAspAlaValGluGlnLysAlaGlnGluIleLeuGlnValGluGlnGlnLeuAlaAsnIleThrValSerGluHisAspAspLeuArgArgAspValSerSerMetTyrAsnLysValThrLeuGlyGlnLeuGlnLysIleThrProHisLeuArgTrpLysTrpLeuLeuAspGlnIlePheGlnGluAspPheSerGluGluGluGluValValLeuLeuAlaThrAspTyrMetGlnGlnValSerGlnLeuIleArgSerThrProHisArgValLeuHisAsnTyrLeuValTrpArgValValValValLeuSerGluHisLeuSerProProPheArgGluAlaLeuHisGluLeuAlaGlnGluMetGluGlySerAspLysProGlnGluLeuAlaArgValCysLeuGlyGlnAlaAsnArgHisPheGlyMetAlaLeuGlyAlaLeuPheValHisGluHisPheSerAlaAlaSerLysAlaLysValGlnGlnLeuValGluAspIleLysTyrIleLeuGlyGlnArgLeuGluGluLeuAspTrpMetAspAlaGluThrArgAlaAlaAlaArgAlaLysLeuGlnTyrMetMetValMetValGlyTyrProAspPheLeuLeuLysProAspAlaValAspLysGluTyrGluPheGluValHisGluLysThrTyrPheLysAsnIleLeuAsnSerIleArgPheSerIleGlnLeuSerValLysLysIleArgGlnGluValAspLysTrpLeuLeuProProGlnAlaLeuAsnAlaTyrTyrLeuProAsnLysAsnGlnMetValPheProAlaGlyIleLeuGlnProThrLeuTyrAspProAspPheProGlnSerLeuAsnTyrGlyGlyIleGlyThrIleIleGlyHisGluLeuThrHisGlyTyrAspAspTrpGlyGlyGlnTyrAspArgSerGlyAsnLeuLeuHisTrpTrpThrGluAlaSerTyrSerArgPheLeuArgLysAlaGluCysIleValArgLeuTyrAspAsnPheThrValTyrAsnGlnArgValAsnGlyLysHisThrLeuGlyGluAsnIleAlaAspMetGlyGlyLeuLysLeuAlaTyrHisAlaTyrGlnLysTrpValArgGluHisGlyProGluHisProLeuProArgLeuLysTyrThrHisAspGlnLeuPhePheIleAlaPheAlaGlnAsnTrpCysIleLysArgArgSerGlnSerIleTyrLeuGlnValLeuThrAspLysHisAlaProGluHisTyrArgValLeuGlySerValSerGlnPheGluGluPheGlyArgAlaPheHisCysProLysAspSerProMetAsnProAlaHisLysCysSerValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 208,
          "referenceAllele": "G",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "ENST00000482346.1:n.208G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826788879",
      "coordinates": [
        {
          "allele": "T",
          "end": 246,
          "referenceAllele": "G",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NM_001290787.1:c.4G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277716.1:p.Glu2Ter",
        "hgvsWellDefined": "NP_001277716.1:p.Glu2_Trp773delinsProProTyrSerLeuThrAlaHisTyrAspGluPheGlnGluValLysTyrValSerArgCysGlyAlaGlyGlyAlaArgGlyAlaSerLeuProProGlyPheProLeuGlyAlaAlaArgSerAlaThrGlyAlaArgSerGlyLeuProArgTrpAsnArgArgGluValCysLeuLeuSerGlyLeuValPheAlaAlaGlyLeuCysAlaIleLeuAlaAlaMetLeuAlaLeuLysTyrLeuGlyProValAlaAlaGlyGlyGlyAlaCysProGluGlyCysProGluArgLysAlaPheAlaArgAlaAlaArgPheLeuAlaAlaAsnLeuAspAlaSerIleAspProCysGlnAspPheTyrSerPheAlaCysGlyGlyTrpLeuArgArgHisAlaIleProAspAspLysLeuThrTyrGlyThrIleAlaAlaIleGlyGluGlnAsnGluGluArgLeuArgArgLeuLeuAlaArgProGlyGlyGlyProGlyGlyAlaAlaGlnArgLysValArgAlaPhePheArgSerCysLeuAspMetArgGluIleGluArgLeuGlyProArgProMetLeuGluValIleGluAspCysGlyGlyTrpAspLeuGlyGlyAlaGluGluArgProGlyValAlaAlaArgTrpAspLeuAsnArgLeuLeuTyrLysAlaGlnGlyValTyrSerAlaAlaAlaLeuPheSerLeuThrValSerLeuAspAspArgAsnSerSerArgTyrValIleArgIleAspGlnAspGlyLeuThrLeuProGluArgThrLeuTyrLeuAlaGlnAspGluAspSerGluLysIleLeuAlaAlaTyrArgValPheMetGluArgValLeuSerLeuLeuGlyAlaAspAlaValGluGlnLysAlaGlnGluIleLeuGlnValGluGlnGlnLeuAlaAsnIleThrValSerGluHisAspAspLeuArgArgAspValSerSerMetTyrAsnLysValThrLeuGlyGlnLeuGlnLysIleThrProHisLeuArgTrpLysTrpLeuLeuAspGlnIlePheGlnGluAspPheSerGluGluGluGluValValLeuLeuAlaThrAspTyrMetGlnGlnValSerGlnLeuIleArgSerThrProHisArgValLeuHisAsnTyrLeuValTrpArgValValValValLeuSerGluHisLeuSerProProPheArgGluAlaLeuHisGluLeuAlaGlnGluMetGluGlySerAspLysProGlnGluLeuAlaArgValCysLeuGlyGlnAlaAsnArgHisPheGlyMetAlaLeuGlyAlaLeuPheValHisGluHisPheSerAlaAlaSerLysAlaLysValGlnGlnLeuValGluAspIleLysTyrIleLeuGlyGlnArgLeuGluGluLeuAspTrpMetAspAlaGluThrArgAlaAlaAlaArgAlaLysLeuGlnTyrMetMetValMetValGlyTyrProAspPheLeuLeuLysProAspAlaValAspLysGluTyrGluPheGluValHisGluLysThrTyrPheLysAsnIleLeuAsnSerIleArgPheSerIleGlnLeuSerValLysLysIleArgGlnGluValAspLysTrpLeuLeuProProGlnAlaLeuAsnAlaTyrTyrLeuProAsnLysAsnGlnMetValPheProAlaGlyIleLeuGlnProThrLeuTyrAspProAspPheProGlnSerLeuAsnTyrGlyGlyIleGlyThrIleIleGlyHisGluLeuThrHisGlyTyrAspAspTrpGlyGlyGlnTyrAspArgSerGlyAsnLeuLeuHisTrpTrpThrGluAlaSerTyrSerArgPheLeuArgLysAlaGluCysIleValArgLeuTyrAspAsnPheThrValTyrAsnGlnArgValAsnGlyLysHisThrLeuGlyGluAsnIleAlaAspMetGlyGlyLeuLysLeuAlaTyrHisAlaTyrGlnLysTrpValArgGluHisGlyProGluHisProLeuProArgLeuLysTyrThrHisAspGlnLeuPhePheIleAlaPheAlaGlnAsnTrpCysIleLysArgArgSerGlnSerIleTyrLeuGlnValLeuThrAspLysHisAlaProGluHisTyrArgValLeuGlySerValSerGlnPheGluGluPheGlyArgAlaPheHisCysProLysAspSerProMetAsnProAlaHisLysCysSerValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645461496",
      "coordinates": [
        {
          "allele": "T",
          "end": 246,
          "referenceAllele": "G",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NM_004826.3:c.4G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004817.2:p.Glu2Ter",
        "hgvsWellDefined": "NP_004817.2:p.Glu2_Trp775delinsProProTyrSerLeuThrAlaHisTyrAspGluPheGlnGluValLysTyrValSerArgCysGlyAlaGlyGlyAlaArgGlyAlaSerLeuProProGlyPheProLeuGlyAlaAlaArgSerAlaThrGlyAlaArgSerGlyLeuProArgTrpAsnArgArgGluValCysLeuLeuSerGlyLeuValPheAlaAlaGlyLeuCysAlaIleLeuAlaAlaMetLeuAlaLeuLysTyrLeuGlyProValAlaAlaGlyGlyGlyAlaCysProGluGlyCysProGluArgLysAlaPheAlaArgAlaAlaArgPheLeuAlaAlaAsnLeuAspAlaSerIleAspProCysGlnAspPheTyrSerPheAlaCysGlyGlyTrpLeuArgArgHisAlaIleProAspAspLysLeuThrTyrGlyThrIleAlaAlaIleGlyGluGlnAsnGluGluArgLeuArgArgLeuLeuAlaArgProGlyGlyGlyProGlyGlyAlaAlaGlnArgLysValArgAlaPhePheArgSerCysLeuAspMetArgGluIleGluArgLeuGlyProArgProMetLeuGluValIleGluAspCysGlyGlyTrpAspLeuGlyGlyAlaGluGluArgProGlyValAlaAlaArgTrpAspLeuAsnArgLeuLeuTyrLysAlaGlnGlyValTyrSerAlaAlaAlaLeuPheSerLeuThrValSerLeuAspAspArgAsnSerSerArgTyrValIleArgIleAspGlnAspGlyLeuThrLeuProGluArgThrLeuTyrLeuAlaGlnAspGluAspSerGluLysIleLeuAlaAlaTyrArgValPheMetGluArgValLeuSerLeuLeuGlyAlaAspAlaValGluGlnLysAlaGlnGluIleLeuGlnValGluGlnGlnLeuAlaAsnIleThrValSerGluHisAspAspLeuArgArgAspValSerSerMetTyrAsnLysValThrLeuGlyGlnLeuGlnLysIleThrProHisLeuArgTrpLysTrpLeuLeuAspGlnIlePheGlnGluAspPheSerGluGluGluGluValValLeuLeuAlaThrAspTyrMetGlnGlnValSerGlnLeuIleArgSerThrProHisArgValLeuHisAsnTyrLeuValTrpArgValValValValLeuSerGluHisLeuSerProProPheArgGluAlaLeuHisGluLeuAlaGlnGluMetGluGlySerAspLysProGlnGluLeuAlaArgValCysLeuGlyGlnAlaAsnArgHisPheGlyMetAlaLeuGlyAlaLeuPheValHisGluHisPheSerAlaAlaSerLysAlaLysValGlnGlnLeuValGluAspIleLysTyrIleLeuGlyGlnArgLeuGluGluLeuAspTrpMetAspAlaGluThrArgAlaAlaAlaArgAlaLysLeuGlnTyrMetMetValMetValGlyTyrProAspPheLeuLeuLysProAspAlaValAspLysGluTyrGluPheGluValHisGluLysThrTyrPheLysAsnIleLeuAsnSerIleArgPheSerIleGlnLeuSerValLysLysIleArgGlnGluValAspLysSerThrTrpLeuLeuProProGlnAlaLeuAsnAlaTyrTyrLeuProAsnLysAsnGlnMetValPheProAlaGlyIleLeuGlnProThrLeuTyrAspProAspPheProGlnSerLeuAsnTyrGlyGlyIleGlyThrIleIleGlyHisGluLeuThrHisGlyTyrAspAspTrpGlyGlyGlnTyrAspArgSerGlyAsnLeuLeuHisTrpTrpThrGluAlaSerTyrSerArgPheLeuArgLysAlaGluCysIleValArgLeuTyrAspAsnPheThrValTyrAsnGlnArgValAsnGlyLysHisThrLeuGlyGluAsnIleAlaAspMetGlyGlyLeuLysLeuAlaTyrHisAlaTyrGlnLysTrpValArgGluHisGlyProGluHisProLeuProArgLeuLysTyrThrHisAspGlnLeuPhePheIleAlaPheAlaGlnAsnTrpCysIleLysArgArgSerGlnSerIleTyrLeuGlnValLeuThrAspLysHisAlaProGluHisTyrArgValLeuGlySerValSerGlnPheGluGluPheGlyArgAlaPheHisCysProLysAspSerProMetAsnProAlaHisLysCysSerValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029971"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645461496",
      "coordinates": [
        {
          "allele": "T",
          "end": 221,
          "referenceAllele": "G",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NM_004826.4:c.4G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004817.2:p.Glu2Ter",
        "hgvsWellDefined": "NP_004817.2:p.Glu2_Trp775delinsProProTyrSerLeuThrAlaHisTyrAspGluPheGlnGluValLysTyrValSerArgCysGlyAlaGlyGlyAlaArgGlyAlaSerLeuProProGlyPheProLeuGlyAlaAlaArgSerAlaThrGlyAlaArgSerGlyLeuProArgTrpAsnArgArgGluValCysLeuLeuSerGlyLeuValPheAlaAlaGlyLeuCysAlaIleLeuAlaAlaMetLeuAlaLeuLysTyrLeuGlyProValAlaAlaGlyGlyGlyAlaCysProGluGlyCysProGluArgLysAlaPheAlaArgAlaAlaArgPheLeuAlaAlaAsnLeuAspAlaSerIleAspProCysGlnAspPheTyrSerPheAlaCysGlyGlyTrpLeuArgArgHisAlaIleProAspAspLysLeuThrTyrGlyThrIleAlaAlaIleGlyGluGlnAsnGluGluArgLeuArgArgLeuLeuAlaArgProGlyGlyGlyProGlyGlyAlaAlaGlnArgLysValArgAlaPhePheArgSerCysLeuAspMetArgGluIleGluArgLeuGlyProArgProMetLeuGluValIleGluAspCysGlyGlyTrpAspLeuGlyGlyAlaGluGluArgProGlyValAlaAlaArgTrpAspLeuAsnArgLeuLeuTyrLysAlaGlnGlyValTyrSerAlaAlaAlaLeuPheSerLeuThrValSerLeuAspAspArgAsnSerSerArgTyrValIleArgIleAspGlnAspGlyLeuThrLeuProGluArgThrLeuTyrLeuAlaGlnAspGluAspSerGluLysIleLeuAlaAlaTyrArgValPheMetGluArgValLeuSerLeuLeuGlyAlaAspAlaValGluGlnLysAlaGlnGluIleLeuGlnValGluGlnGlnLeuAlaAsnIleThrValSerGluHisAspAspLeuArgArgAspValSerSerMetTyrAsnLysValThrLeuGlyGlnLeuGlnLysIleThrProHisLeuArgTrpLysTrpLeuLeuAspGlnIlePheGlnGluAspPheSerGluGluGluGluValValLeuLeuAlaThrAspTyrMetGlnGlnValSerGlnLeuIleArgSerThrProHisArgValLeuHisAsnTyrLeuValTrpArgValValValValLeuSerGluHisLeuSerProProPheArgGluAlaLeuHisGluLeuAlaGlnGluMetGluGlySerAspLysProGlnGluLeuAlaArgValCysLeuGlyGlnAlaAsnArgHisPheGlyMetAlaLeuGlyAlaLeuPheValHisGluHisPheSerAlaAlaSerLysAlaLysValGlnGlnLeuValGluAspIleLysTyrIleLeuGlyGlnArgLeuGluGluLeuAspTrpMetAspAlaGluThrArgAlaAlaAlaArgAlaLysLeuGlnTyrMetMetValMetValGlyTyrProAspPheLeuLeuLysProAspAlaValAspLysGluTyrGluPheGluValHisGluLysThrTyrPheLysAsnIleLeuAsnSerIleArgPheSerIleGlnLeuSerValLysLysIleArgGlnGluValAspLysSerThrTrpLeuLeuProProGlnAlaLeuAsnAlaTyrTyrLeuProAsnLysAsnGlnMetValPheProAlaGlyIleLeuGlnProThrLeuTyrAspProAspPheProGlnSerLeuAsnTyrGlyGlyIleGlyThrIleIleGlyHisGluLeuThrHisGlyTyrAspAspTrpGlyGlyGlnTyrAspArgSerGlyAsnLeuLeuHisTrpTrpThrGluAlaSerTyrSerArgPheLeuArgLysAlaGluCysIleValArgLeuTyrAspAsnPheThrValTyrAsnGlnArgValAsnGlyLysHisThrLeuGlyGluAsnIleAlaAspMetGlyGlyLeuLysLeuAlaTyrHisAlaTyrGlnLysTrpValArgGluHisGlyProGluHisProLeuProArgLeuLysTyrThrHisAspGlnLeuPhePheIleAlaPheAlaGlnAsnTrpCysIleLysArgArgSerGlnSerIleTyrLeuGlnValLeuThrAspLysHisAlaProGluHisTyrArgValLeuGlySerValSerGlnPheGluGluPheGlyArgAlaPheHisCysProLysAspSerProMetAsnProAlaHisLysCysSerValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666676",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304546.6:c.4G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004826.4:c.4G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302051.1:p.Glu2Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004817.2:p.Glu2Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826788879",
      "coordinates": [
        {
          "allele": "T",
          "end": 221,
          "referenceAllele": "G",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NM_001290787.2:c.4G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277716.1:p.Glu2Ter",
        "hgvsWellDefined": "NP_001277716.1:p.Glu2_Trp773delinsProProTyrSerLeuThrAlaHisTyrAspGluPheGlnGluValLysTyrValSerArgCysGlyAlaGlyGlyAlaArgGlyAlaSerLeuProProGlyPheProLeuGlyAlaAlaArgSerAlaThrGlyAlaArgSerGlyLeuProArgTrpAsnArgArgGluValCysLeuLeuSerGlyLeuValPheAlaAlaGlyLeuCysAlaIleLeuAlaAlaMetLeuAlaLeuLysTyrLeuGlyProValAlaAlaGlyGlyGlyAlaCysProGluGlyCysProGluArgLysAlaPheAlaArgAlaAlaArgPheLeuAlaAlaAsnLeuAspAlaSerIleAspProCysGlnAspPheTyrSerPheAlaCysGlyGlyTrpLeuArgArgHisAlaIleProAspAspLysLeuThrTyrGlyThrIleAlaAlaIleGlyGluGlnAsnGluGluArgLeuArgArgLeuLeuAlaArgProGlyGlyGlyProGlyGlyAlaAlaGlnArgLysValArgAlaPhePheArgSerCysLeuAspMetArgGluIleGluArgLeuGlyProArgProMetLeuGluValIleGluAspCysGlyGlyTrpAspLeuGlyGlyAlaGluGluArgProGlyValAlaAlaArgTrpAspLeuAsnArgLeuLeuTyrLysAlaGlnGlyValTyrSerAlaAlaAlaLeuPheSerLeuThrValSerLeuAspAspArgAsnSerSerArgTyrValIleArgIleAspGlnAspGlyLeuThrLeuProGluArgThrLeuTyrLeuAlaGlnAspGluAspSerGluLysIleLeuAlaAlaTyrArgValPheMetGluArgValLeuSerLeuLeuGlyAlaAspAlaValGluGlnLysAlaGlnGluIleLeuGlnValGluGlnGlnLeuAlaAsnIleThrValSerGluHisAspAspLeuArgArgAspValSerSerMetTyrAsnLysValThrLeuGlyGlnLeuGlnLysIleThrProHisLeuArgTrpLysTrpLeuLeuAspGlnIlePheGlnGluAspPheSerGluGluGluGluValValLeuLeuAlaThrAspTyrMetGlnGlnValSerGlnLeuIleArgSerThrProHisArgValLeuHisAsnTyrLeuValTrpArgValValValValLeuSerGluHisLeuSerProProPheArgGluAlaLeuHisGluLeuAlaGlnGluMetGluGlySerAspLysProGlnGluLeuAlaArgValCysLeuGlyGlnAlaAsnArgHisPheGlyMetAlaLeuGlyAlaLeuPheValHisGluHisPheSerAlaAlaSerLysAlaLysValGlnGlnLeuValGluAspIleLysTyrIleLeuGlyGlnArgLeuGluGluLeuAspTrpMetAspAlaGluThrArgAlaAlaAlaArgAlaLysLeuGlnTyrMetMetValMetValGlyTyrProAspPheLeuLeuLysProAspAlaValAspLysGluTyrGluPheGluValHisGluLysThrTyrPheLysAsnIleLeuAsnSerIleArgPheSerIleGlnLeuSerValLysLysIleArgGlnGluValAspLysTrpLeuLeuProProGlnAlaLeuAsnAlaTyrTyrLeuProAsnLysAsnGlnMetValPheProAlaGlyIleLeuGlnProThrLeuTyrAspProAspPheProGlnSerLeuAsnTyrGlyGlyIleGlyThrIleIleGlyHisGluLeuThrHisGlyTyrAspAspTrpGlyGlyGlnTyrAspArgSerGlyAsnLeuLeuHisTrpTrpThrGluAlaSerTyrSerArgPheLeuArgLysAlaGluCysIleValArgLeuTyrAspAsnPheThrValTyrAsnGlnArgValAsnGlyLysHisThrLeuGlyGluAsnIleAlaAspMetGlyGlyLeuLysLeuAlaTyrHisAlaTyrGlnLysTrpValArgGluHisGlyProGluHisProLeuProArgLeuLysTyrThrHisAspGlnLeuPhePheIleAlaPheAlaGlnAsnTrpCysIleLysArgArgSerGlnSerIleTyrLeuGlnValLeuThrAspLysHisAlaProGluHisTyrArgValLeuGlySerValSerGlnPheGluGluPheGlyArgAlaPheHisCysProLysAspSerProMetAsnProAlaHisLysCysSerValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682769"
    }
  ],
  "type": "nucleotide"
}