{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16618118",
  "communityStandardTitle": [
    "NM_001369.3(DNAH5):c.6427G>T (p.Glu2143Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=406634[alleleid]",
        "alleleId": 406634,
        "preferredName": "NM_001369.3(DNAH5):c.6427G>T (p.Glu2143Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/422000",
        "RCV": [
          "RCV000482090",
          "RCV001865463"
        ],
        "variationId": 422000
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13829636C>A?assembly=hg19",
        "id": "chr5:g.13829636C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13829527C>A?assembly=hg38",
        "id": "chr5:g.13829527C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064795496",
        "rs": 1064795496
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13829527-C-A?dataset=gnomad_r4",
        "id": "5-13829527-C-A",
        "variant": "5:13829527 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13829527,
          "referenceAllele": "C",
          "start": 13829526
        }
      ],
      "hgvs": [
        "NC_000005.10:g.13829527C>A",
        "CM000667.2:g.13829527C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13829636,
          "referenceAllele": "C",
          "start": 13829635
        }
      ],
      "hgvs": [
        "NC_000005.9:g.13829636C>A",
        "CM000667.1:g.13829636C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13882636,
          "referenceAllele": "C",
          "start": 13882635
        }
      ],
      "hgvs": [
        "NC_000005.8:g.13882636C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 119954,
          "referenceAllele": "G",
          "start": 119953
        }
      ],
      "hgvs": [
        "NG_013081.1:g.119954G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 119954,
          "referenceAllele": "G",
          "start": 119953
        }
      ],
      "hgvs": [
        "NG_013081.2:g.119954G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673632"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1358,
          "referenceAllele": "G",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000683090.1:n.1358G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6677,
          "referenceAllele": "G",
          "start": 6676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.5:c.6427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Glu2143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.6427G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.6427G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Glu2143Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Glu2143Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6541,
          "referenceAllele": "G",
          "start": 6540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000681290.1:c.6382G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505288.1:p.Glu2128Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6532,
          "referenceAllele": "G",
          "start": 6531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.4:c.6427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Glu2143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6469,
          "referenceAllele": "G",
          "start": 6468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.2:c.6427G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Glu2143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6482,
          "referenceAllele": "G",
          "start": 6481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.2:c.6382G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.1:p.Glu2128Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6634,
          "referenceAllele": "G",
          "start": 6633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_011513990.1:c.6427G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512292.1:p.Glu2143Ter",
        "hgvsWellDefined": "XP_011512292.1:p.Glu2143_Leu3035delinsGlnLeuSerLysGlnValHisTyrAspPheGlyLeuArgAsnIleLeuSerValLeuArgThrLeuGlyAlaAlaLysArgAlaAsnProMetAspThrGluSerThrIleValMetArgValLeuArgAspMetAsnLeuSerLysLeuIleAspGluAspGluProLeuPheLeuSerLeuIleGluAspLeuPheProAsnIleLeuLeuAspLysAlaGlyTyrProGluLeuGluAlaAlaIleSerArgGlnValGluGluAlaGlyLeuIleAsnHisProProTrpLysLeuLysValIleGlnLeuPheGluThrGlnArgValArgHisGlyMetMetThrLeuGlyProSerGlyAlaGlyLysThrThrCysIleHisThrLeuMetArgAlaMetThrAspCysGlyLysProHisArgGluMetArgMetAsnProLysAlaIleThrAlaProGlnMetPheGlyArgLeuAspValAlaThrAsnAspTrpThrAspGlyIlePheSerThrLeuTrpArgLysThrLeuArgAlaLysLysGlyGluHisIleTrpIleIleLeuAspGlyProValAspAlaIleTrpIleGluAsnLeuAsnSerValLeuAspAspAsnLysThrLeuThrLeuAlaAsnGlyAspArgIleProMetAlaProAsnCysLysIleIlePheGluProHisAsnIleAspAsnAlaSerProAlaThrValSerArgAsnGlyMetValPheMetSerSerSerIleLeuAspTrpSerProIleLeuGluGlyPheLeuLysLysArgSerProGlnGluAlaGluIleLeuArgGlnLeuTyrThrGluSerPheProAspLeuTyrArgPheCysIleGlnAsnLeuGluTyrLysMetGluValLeuGluAlaPheValIleThrGlnSerIleAsnMetLeuGlnGlyLeuIleProLeuLysGluGlnGlyGlyGluValSerGlnAlaHisLeuGlyArgLeuPheValPheAlaLeuLeuTrpSerAlaGlyAlaAlaLeuGluLeuAspGlyArgArgArgLeuGluLeuTrpLeuArgSerArgProThrGlyThrLeuGluLeuProProProAlaGlyProGlyAspThrAlaPheAspTyrTyrValAlaProAspGlyThrTrpThrHisTrpAsnThrArgThrGlnGluTyrLeuTyrProSerAspThrThrProGluTyrGlySerIleLeuValProAsnValAspAsnValArgThrAspPheLeuIleGlnThrIleAlaLysGlnGlyLysAlaValLeuLeuIleGlyGluGlnGlyThrAlaLysThrValIleIleLysGlyPheMetSerLysTyrAspProGluCysHisMetIleLysSerLeuAsnPheSerSerAlaThrThrProLeuMetPheGlnArgThrIleGluSerTyrValAspLysArgMetGlyThrThrTyrGlyProProAlaGlyLysLysMetThrValPheIleAspAspValAsnMetProIleIleAsnGluTrpGlyAspGlnValThrAsnGluIleValArgGlnLeuMetGluGlnAsnGlyPheTyrAsnLeuGluLysProGlyGluPheThrSerIleValAspIleGlnPheLeuAlaAlaMetIleHisProGlyGlyGlyArgAsnAspIleProGlnArgLeuLysArgGlnPheSerIlePheAsnCysThrLeuProSerGluAlaSerValAspLysIlePheGlyValIleGlyValGlyHisTyrCysThrGlnArgGlyPheSerGluGluValArgAspSerValThrLysLeuValProLeuThrArgArgLeuTrpGlnMetThrLysIleLysMetLeuProThrProAlaLysPheHisTyrValPheAsnLeuArgAspLeuSerArgValTrpGlnGlyMetLeuAsnThrThrSerGluValIleLysGluProAsnAspLeuLeuLysLeuTrpLysHisGluCysLysArgValIleAlaAspArgPheThrValSerSerAspValThrTrpPheAspLysAlaLeuValSerLeuValGluGluGluPheGlyGluGluLysLysLeuLeuValAspCysGlyIleAspThrTyrPheValAspPheLeuArgAspAlaProGluAlaAlaGlyGluThrSerGluGluAlaAspAlaGluThrProLysIleTyrGluProIleGluSerPheSerHisLeuLysGluArgLeuAsnMetPheLeuGlnLeuTyrAsnGluSerIleArgGlyAlaGlyMetAspMetValPhePheAlaAspAlaMetValHisLeuValLysIleSerArgValIleArgThrProGlnGlyAsnAlaLeuLeuValGlyValGlyGlySerGlyLysGlnSerLeuThrArgLeuAlaSerPheIleAlaGlyTyrValSerPheGlnIleThrLeuThrArgSerTyrAsnThrSerAsnLeuMetGluAspLeuLysValLeuTyrArgThrAlaGlyGlnGlnGlyLysGlyIleThrPheIlePheThrAspAsnGluIleLysAspGluSerPheLeuGluTyrMetAsnAsnValLeuSerSerGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6634,
          "referenceAllele": "G",
          "start": 6633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_925598.1:n.6634G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6552,
          "referenceAllele": "G",
          "start": 6551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.3:c.6535G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.2:p.Glu2179Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6552,
          "referenceAllele": "G",
          "start": 6551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009177.1:c.6535G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864666.1:p.Glu2179Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7355,
          "referenceAllele": "G",
          "start": 7354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009178.1:c.5440G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864667.1:p.Glu1814Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5578,
          "referenceAllele": "G",
          "start": 5577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009179.2:c.5440G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864668.1:p.Glu1814Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6552,
          "referenceAllele": "G",
          "start": 6551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009180.1:c.6535G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864669.1:p.Glu2179Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6552,
          "referenceAllele": "G",
          "start": 6551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009181.1:c.6535G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864670.1:p.Glu2179Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6552,
          "referenceAllele": "G",
          "start": 6551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009182.1:c.6535G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864671.1:p.Glu2179Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6552,
          "referenceAllele": "G",
          "start": 6551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009183.1:c.6535G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864672.1:p.Glu2179Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6552,
          "referenceAllele": "G",
          "start": 6551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009184.1:c.6535G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864673.1:p.Glu2179Ter",
        "hgvsWellDefined": "XP_016864673.1:p.Glu2179_Leu3071delinsGlnLeuSerLysGlnValHisTyrAspPheGlyLeuArgAsnIleLeuSerValLeuArgThrLeuGlyAlaAlaLysArgAlaAsnProMetAspThrGluSerThrIleValMetArgValLeuArgAspMetAsnLeuSerLysLeuIleAspGluAspGluProLeuPheLeuSerLeuIleGluAspLeuPheProAsnIleLeuLeuAspLysAlaGlyTyrProGluLeuGluAlaAlaIleSerArgGlnValGluGluAlaGlyLeuIleAsnHisProProTrpLysLeuLysValIleGlnLeuPheGluThrGlnArgValArgHisGlyMetMetThrLeuGlyProSerGlyAlaGlyLysThrThrCysIleHisThrLeuMetArgAlaMetThrAspCysGlyLysProHisArgGluMetArgMetAsnProLysAlaIleThrAlaProGlnMetPheGlyArgLeuAspValAlaThrAsnAspTrpThrAspGlyIlePheSerThrLeuTrpArgLysThrLeuArgAlaLysLysGlyGluHisIleTrpIleIleLeuAspGlyProValAspAlaIleTrpIleGluAsnLeuAsnSerValLeuAspAspAsnLysThrLeuThrLeuAlaAsnGlyAspArgIleProMetAlaProAsnCysLysIleIlePheGluProHisAsnIleAspAsnAlaSerProAlaThrValSerArgAsnGlyMetValPheMetSerSerSerIleLeuAspTrpSerProIleLeuGluGlyPheLeuLysLysArgSerProGlnGluAlaGluIleLeuArgGlnLeuTyrThrGluSerPheProAspLeuTyrArgPheCysIleGlnAsnLeuGluTyrLysMetGluValLeuGluAlaPheValIleThrGlnSerIleAsnMetLeuGlnGlyLeuIleProLeuLysGluGlnGlyGlyGluValSerGlnAlaHisLeuGlyArgLeuPheValPheAlaLeuLeuTrpSerAlaGlyAlaAlaLeuGluLeuAspGlyArgArgArgLeuGluLeuTrpLeuArgSerArgProThrGlyThrLeuGluLeuProProProAlaGlyProGlyAspThrAlaPheAspTyrTyrValAlaProAspGlyThrTrpThrHisTrpAsnThrArgThrGlnGluTyrLeuTyrProSerAspThrThrProGluTyrGlySerIleLeuValProAsnValAspAsnValArgThrAspPheLeuIleGlnThrIleAlaLysGlnGlyLysAlaValLeuLeuIleGlyGluGlnGlyThrAlaLysThrValIleIleLysGlyPheMetSerLysTyrAspProGluCysHisMetIleLysSerLeuAsnPheSerSerAlaThrThrProLeuMetPheGlnArgThrIleGluSerTyrValAspLysArgMetGlyThrThrTyrGlyProProAlaGlyLysLysMetThrValPheIleAspAspValAsnMetProIleIleAsnGluTrpGlyAspGlnValThrAsnGluIleValArgGlnLeuMetGluGlnAsnGlyPheTyrAsnLeuGluLysProGlyGluPheThrSerIleValAspIleGlnPheLeuAlaAlaMetIleHisProGlyGlyGlyArgAsnAspIleProGlnArgLeuLysArgGlnPheSerIlePheAsnCysThrLeuProSerGluAlaSerValAspLysIlePheGlyValIleGlyValGlyHisTyrCysThrGlnArgGlyPheSerGluGluValArgAspSerValThrLysLeuValProLeuThrArgArgLeuTrpGlnMetThrLysIleLysMetLeuProThrProAlaLysPheHisTyrValPheAsnLeuArgAspLeuSerArgValTrpGlnGlyMetLeuAsnThrThrSerGluValIleLysGluProAsnAspLeuLeuLysLeuTrpLysHisGluCysLysArgValIleAlaAspArgPheThrValSerSerAspValThrTrpPheAspLysAlaLeuValSerLeuValGluGluGluPheGlyGluGluLysLysLeuLeuValAspCysGlyIleAspThrTyrPheValAspPheLeuArgAspAlaProGluAlaAlaGlyGluThrSerGluGluAlaAspAlaGluThrProLysIleTyrGluProIleGluSerPheSerHisLeuLysGluArgLeuAsnMetPheLeuGlnLeuTyrAsnGluSerIleArgGlyAlaGlyMetAspMetValPhePheAlaAspAlaMetValHisLeuValLysIleSerArgValIleArgThrProGlnGlyAsnAlaLeuLeuValGlyValGlyGlySerGlyLysGlnSerLeuThrArgLeuAlaSerPheIleAlaGlyTyrValSerPheGlnIleThrLeuThrArgSerTyrAsnThrSerAsnLeuMetGluAspLeuLysValLeuTyrArgThrAlaGlyGlnGlnGlyLysGlyIleThrPheIlePheThrAspAsnGluIleLysAspGluSerPheLeuGluTyrMetAsnAsnValLeuSerSerGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1848,
          "referenceAllele": "G",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009185.1:c.1624G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864674.1:p.Glu542Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1264,
          "referenceAllele": "G",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009186.1:c.1177G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864675.1:p.Glu393Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6552,
          "referenceAllele": "G",
          "start": 6551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009187.1:c.6535G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864676.1:p.Glu2179Ter",
        "hgvsWellDefined": "XP_016864676.1:p.Glu2179_Arg2679delinsGlnLeuSerLysGlnValHisTyrAspPheGlyLeuArgAsnIleLeuSerValLeuArgThrLeuGlyAlaAlaLysArgAlaAsnProMetAspThrGluSerThrIleValMetArgValLeuArgAspMetAsnLeuSerLysLeuIleAspGluAspGluProLeuPheLeuSerLeuIleGluAspLeuPheProAsnIleLeuLeuAspLysAlaGlyTyrProGluLeuGluAlaAlaIleSerArgGlnValGluGluAlaGlyLeuIleAsnHisProProTrpLysLeuLysValIleGlnLeuPheGluThrGlnArgValArgHisGlyMetMetThrLeuGlyProSerGlyAlaGlyLysThrThrCysIleHisThrLeuMetArgAlaMetThrAspCysGlyLysProHisArgGluMetArgMetAsnProLysAlaIleThrAlaProGlnMetPheGlyArgLeuAspValAlaThrAsnAspTrpThrAspGlyIlePheSerThrLeuTrpArgLysThrLeuArgAlaLysLysGlyGluHisIleTrpIleIleLeuAspGlyProValAspAlaIleTrpIleGluAsnLeuAsnSerValLeuAspAspAsnLysThrLeuThrLeuAlaAsnGlyAspArgIleProMetAlaProAsnCysLysIleIlePheGluProHisAsnIleAspAsnAlaSerProAlaThrValSerArgAsnGlyMetValPheMetSerSerSerIleLeuAspTrpSerProIleLeuGluGlyPheLeuLysLysArgSerProGlnGluAlaGluIleLeuArgGlnLeuTyrThrGluSerPheProAspLeuTyrArgPheCysIleGlnAsnLeuGluTyrLysMetGluValLeuGluAlaPheValIleThrGlnSerIleAsnMetLeuGlnGlyLeuIleProLeuLysGluGlnGlyGlyGluValSerGlnAlaHisLeuGlyArgLeuPheValPheAlaLeuLeuTrpSerAlaGlyAlaAlaLeuGluLeuAspGlyArgArgArgLeuGluLeuTrpLeuArgSerArgProThrGlyThrLeuGluLeuProProProAlaGlyProGlyAspThrAlaPheAspTyrTyrValAlaProAspGlyThrTrpThrHisTrpAsnThrArgThrGlnGluTyrLeuTyrProSerAspThrThrProGluTyrGlySerIleLeuValProAsnValAspAsnValArgThrAspPheLeuIleGlnThrIleAlaLysGlnGlyLysAlaValLeuLeuIleGlyGluGlnGlyThrAlaLysThrValIleIleLysGlyPheMetSerLysTyrAspProGluCysHisMetIleLysSerLeuAsnPheSerSerAlaThrThrProLeuMetPheGlnAlaPheArgArgSerTyrGlnThrSerThrLeuArgGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2080,
          "referenceAllele": "G",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009188.1:c.514G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864677.1:p.Glu172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9225,
          "referenceAllele": "G",
          "start": 9224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454388.1:c.5440G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310156.1:p.Glu1814Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7867,
          "referenceAllele": "G",
          "start": 7866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454389.1:c.5029G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310157.1:p.Glu1677Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6552,
          "referenceAllele": "G",
          "start": 6551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742034.1:n.6552G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6552,
          "referenceAllele": "G",
          "start": 6551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742035.1:n.6552G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6677,
          "referenceAllele": "G",
          "start": 6676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.6427G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Glu2143Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.6427G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.6427G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Glu2143Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Glu2143Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}