{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA144494", "communityStandardTitle": [ "NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=71426[alleleid]", "alleleId": 71426, "preferredName": "NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56787", "RCV": [ "RCV000050200", "RCV000201769", "RCV002514272" ], "variationId": 56787 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/8-94784840-G-A", "id": "8-94784840-G-A", "variant": "8:94784840 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.94784840G>A?assembly=hg19", "id": "chr8:g.94784840G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.93772612G>A?assembly=hg38", "id": "chr8:g.93772612G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/386834205", "rs": 386834205 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-94784840-G-A?dataset=gnomad_r2_1", "id": "8-94784840-G-A", "variant": "8:94784840 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-93772612-G-A?dataset=gnomad_r3", "id": "8-93772612-G-A", "variant": "8:93772612 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-93772612-G-A?dataset=gnomad_r4", "id": "8-93772612-G-A", "variant": "8:93772612 G / A" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 93772612, "referenceAllele": "G", "start": 93772611 } ], "hgvs": [ "NC_000008.11:g.93772612G>A", "CM000670.2:g.93772612G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 94784840, "referenceAllele": "G", "start": 94784839 } ], "hgvs": [ "NC_000008.10:g.94784840G>A", "CM000670.1:g.94784840G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 94854016, "referenceAllele": "G", "start": 94854015 } ], "hgvs": [ "NC_000008.9:g.94854016G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "A", "end": 22769, "referenceAllele": "G", "start": 22768 } ], "hgvs": [ "NG_009190.1:g.22769G>A", "LRG_688:g.22769G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001468" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 675, "referenceAllele": "G", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000323130.8:c.675G>A" ], "proteinEffect": { "hgvs": "ENSP00000314488.4:p.Trp225Ter", "hgvsWellDefined": "ENSP00000314488.4:p.Trp225_Ile995delinsPheAlaLysTyrLeuGlnSerSerAlaAlaAlaCysTrpValTyrAlaAsnLeuThrSerCysGlnAlaLeuGlyAsnMetCysValMetAsnMetAsnSerTyrAspPheAlaThrPheAspAlaCysGlyLeuPheGlnPheIlePheGluAsnThrAlaGlyLeuSerThrValHisSerIleSerPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS823873" }, { "coordinates": [ { "allele": "A", "end": 691, "referenceAllele": "G", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000409623.8:c.675G>A" ], "proteinEffect": { "hgvs": "ENSP00000386966.4:p.Trp225Ter", "hgvsWellDefined": "ENSP00000386966.4:p.Trp225_Ile980delinsPheAlaLysTyrLeuGlnSerSerAlaAlaAlaCysTrpValTyrAlaAsnLeuThrSerCysGlnAlaLeuGlyAsnMetCysValMetAsnMetAsnSerTyrAspPheAlaThrPheAspAlaCysGlyLeuPheGlnPheIlePheGluAsnThrAlaGlyLeuSerThrValHisSerIleSerPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824612" }, { "coordinates": [ { "allele": "A", "end": 675, "referenceAllele": "G", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000452276.6:c.675G>A" ], "proteinEffect": { "hgvs": "ENSP00000388671.2:p.Trp225Ter", "hgvsWellDefined": "ENSP00000388671.2:p.Trp225_Ile956delinsPheAlaLysTyrLeuGlnSerSerAlaAlaAlaCysTrpValTyrAlaAsnLeuThrSerCysGlnAlaLeuGlyAsnMetCysValMetAsnMetAsnSerTyrAspPheAlaThrPheAspAlaCysGlyLeuPheGlnPheIlePheGluAsnThrAlaGlyLeuSerThrValHisSerIleSerPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825032" }, { "coordinates": [ { "allele": "A", "end": 427, "endIntronDirection": "-", "endIntronOffset": 13610, "referenceAllele": "G", "start": 427, "startIntronDirection": "-", "startIntronOffset": 13611 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000453906.6:c.407-13611G>A" ], "proteinEffect": { "hgvs": "ENSP00000403035.2:n.407-13611G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS825047" }, { "coordinates": [ { "allele": "A", "end": 680, "referenceAllele": "G", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000520680.2:c.675G>A" ], "proteinEffect": { "hgvs": "ENSP00000428785.2:p.Trp225Ter", "hgvsWellDefined": "ENSP00000428785.2:p.Trp225_Ile1036delinsPheAlaLysTyrLeuGlnSerSerAlaAlaAlaCysTrpValTyrAlaAsnLeuThrSerCysGlnAlaLeuGlyAsnMetCysValMetAsnMetAsnSerTyrAspPheAlaThrPheAspAlaCysGlyLeuPheGlnPheIlePheGluAsnThrAlaGlyLeuSerThrValHisSerIleSerPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspThrGluPheCysThrCysCysProGlyTrpSerAlaMetAlaArgSerTrpLeuThrAlaThrSerAlaSerArgValGlnAlaIleLeuLeuSerGlnProProGluTyrLeuGlyLeuGlnIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825660" }, { "coordinates": [ { "allele": "A", "end": 830, "referenceAllele": "G", "start": 829 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000521065.2:c.*392G>A" ], "proteinEffect": { "hgvs": "ENSP00000427947.2:n.*392G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS825666" }, { "coordinates": [ { "allele": "A", "end": 675, "referenceAllele": "G", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000521517.6:c.675G>A" ], "proteinEffect": { "hgvs": "ENSP00000430740.2:p.Trp225Ter", "hgvsWellDefined": "ENSP00000430740.2:p.Trp225_Ile962delinsPheAlaLysTyrLeuGlnSerSerAlaAlaAlaCysTrpValTyrAlaAsnLeuThrSerCysGlnAlaLeuGlyAsnMetCysValMetAsnMetAsnSerTyrAspPheAlaThrPheAspAlaCysGlyLeuPheGlnPheIlePheGluAsnThrAlaGlyLeuSerThrValHisSerIleSerPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS829023" }, { "coordinates": [ { "allele": "A", "end": 2225, "referenceAllele": "G", "start": 2224 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000684089.1:n.2225G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829048" }, { "coordinates": [ { "allele": "A", "end": 626, "referenceAllele": "G", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000684149.1:c.*11G>A" ], "proteinEffect": { "hgvs": "ENSP00000507943.1:n.*11G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829107" }, { "coordinates": [ { "allele": "A", "end": 634, "referenceAllele": "G", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000684416.1:n.634G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829371" }, { "coordinates": [ { "allele": "A", "end": 605, "referenceAllele": "G", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000684540.1:c.605G>A" ], "proteinEffect": { "hgvs": "ENSP00000507987.1:n.605G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829493" }, { "coordinates": [ { "allele": "A", "end": 696, "referenceAllele": "G", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000453321.8:c.675G>A" ], "proteinEffect": { "hgvs": "ENSP00000389998.3:p.Trp225Ter", "hgvsWellDefined": "ENSP00000389998.3:p.Trp225_Ile995delinsPheAlaLysTyrLeuGlnSerSerAlaAlaAlaCysTrpValTyrAlaAsnLeuThrSerCysGlnAlaLeuGlyAsnMetCysValMetAsnMetAsnSerTyrAspPheAlaThrPheAspAlaCysGlyLeuPheGlnPheIlePheGluAsnThrAlaGlyLeuSerThrValHisSerIleSerPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756420", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000453321.8:c.675G>A" }, "RefSeq": { "hgvs": "NM_153704.6:c.675G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389998.3:p.Trp225Ter" }, "RefSeq": { "hgvs": "NP_714915.3:p.Trp225Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 663, "referenceAllele": "G", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000323130.7:c.645G>A" ], "proteinEffect": { "hgvs": "ENSP00000314488.3:p.Trp215Ter", "hgvsWellDefined": "ENSP00000314488.3:p.Trp215_Ile985delinsPheAlaLysTyrLeuGlnSerSerAlaAlaAlaCysTrpValTyrAlaAsnLeuThrSerCysGlnAlaLeuGlyAsnMetCysValMetAsnMetAsnSerTyrAspPheAlaThrPheAspAlaCysGlyLeuPheGlnPheIlePheGluAsnThrAlaGlyLeuSerThrValHisSerIleSerPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258176" }, { "coordinates": [ { "allele": "A", "end": 634, "referenceAllele": "G", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000409623.7:c.432G>A" ], "proteinEffect": { "hgvs": "ENSP00000386966.3:p.Trp144Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS281708" }, { "coordinates": [ { "allele": "A", "end": 122, "referenceAllele": "G", "start": 121 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000425545.2:n.122G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS288811" }, { "coordinates": [ { "allele": "A", "end": 636, "referenceAllele": "G", "start": 635 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000452276.5:c.366G>A" ], "proteinEffect": { "hgvs": "ENSP00000388671.1:p.Trp122Ter", "hgvsWellDefined": "ENSP00000388671.1:p.Trp122_Ala397del" }, "referenceSequence": "http://reg.genome.network/refseq/RS301555" }, { "coordinates": [ { "allele": "A", "end": 733, "referenceAllele": "G", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000453321.7:c.675G>A" ], "proteinEffect": { "hgvs": "ENSP00000389998.3:p.Trp225Ter", "hgvsWellDefined": "ENSP00000389998.3:p.Trp225_Ile995delinsPheAlaLysTyrLeuGlnSerSerAlaAlaAlaCysTrpValTyrAlaAsnLeuThrSerCysGlnAlaLeuGlyAsnMetCysValMetAsnMetAsnSerTyrAspPheAlaThrPheAspAlaCysGlyLeuPheGlnPheIlePheGluAsnThrAlaGlyLeuSerThrValHisSerIleSerPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302051" }, { "coordinates": [ { "allele": "A", "end": 426, "endIntronDirection": "-", "endIntronOffset": 13610, "referenceAllele": "G", "start": 426, "startIntronDirection": "-", "startIntronOffset": 13611 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000453906.5:c.407-13611G>A" ], "proteinEffect": { "hgvs": "ENSP00000403035.1:n.407-13611G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS302328" }, { "coordinates": [ { "allele": "A", "end": 426, "endIntronDirection": "-", "endIntronOffset": 13610, "referenceAllele": "G", "start": 426, "startIntronDirection": "-", "startIntronOffset": 13611 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000474944.5:n.427-13611G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316339" }, { "coordinates": [ { "allele": "A", "end": 140, "referenceAllele": "G", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000496213.5:n.140G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS332744" }, { "@id": "http://reg.genome.network/allele/PA144497", "coordinates": [ { "allele": "A", "end": 677, "referenceAllele": "G", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "NM_001142301.1:c.432G>A", "LRG_688t2:c.432G>A" ], "proteinEffect": { "hgvs": "NP_001135773.1:p.Trp144Ter", "hgvsWellDefined": "NP_001135773.1:p.Trp144_Ile914delinsPheAlaLysTyrLeuGlnSerSerAlaAlaAlaCysTrpValTyrAlaAsnLeuThrSerCysGlnAlaLeuGlyAsnMetCysValMetAsnMetAsnSerTyrAspPheAlaThrPheAspAlaCysGlyLeuPheGlnPheIlePheGluAsnThrAlaGlyLeuSerThrValHisSerIleSerPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012819" }, { "@id": "http://reg.genome.network/allele/PA144498", "coordinates": [ { "allele": "A", "end": 746, "referenceAllele": "G", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "NM_153704.5:c.675G>A", "LRG_688t1:c.675G>A" ], "proteinEffect": { "hgvs": "NP_714915.3:p.Trp225Ter", "hgvsWellDefined": "NP_714915.3:p.Trp225_Ile995delinsPheAlaLysTyrLeuGlnSerSerAlaAlaAlaCysTrpValTyrAlaAsnLeuThrSerCysGlnAlaLeuGlyAsnMetCysValMetAsnMetAsnSerTyrAspPheAlaThrPheAspAlaCysGlyLeuPheGlnPheIlePheGluAsnThrAlaGlyLeuSerThrValHisSerIleSerPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042476" }, { "coordinates": [ { "allele": "A", "end": 746, "referenceAllele": "G", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "NR_024522.1:n.746G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS047028" }, { "coordinates": [ { "allele": "A", "end": 581, "referenceAllele": "G", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XM_006716686.2:c.372G>A" ], "proteinEffect": { "hgvs": "XP_006716749.1:p.Trp124Ter", "hgvsWellDefined": "XP_006716749.1:p.Trp124_Ile894delinsPheAlaLysTyrLeuGlnSerSerAlaAlaAlaCysTrpValTyrAlaAsnLeuThrSerCysGlnAlaLeuGlyAsnMetCysValMetAsnMetAsnSerTyrAspPheAlaThrPheAspAlaCysGlyLeuPheGlnPheIlePheGluAsnThrAlaGlyLeuSerThrValHisSerIleSerPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071794" }, { "coordinates": [ { "allele": "A", "end": 90, "referenceAllele": "G", "start": 89 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XM_006716687.2:c.75G>A" ], "proteinEffect": { "hgvs": "XP_006716750.1:p.Trp25Ter", "hgvsWellDefined": "XP_006716750.1:p.Trp25_Ile795delinsPheAlaLysTyrLeuGlnSerSerAlaAlaAlaCysTrpValTyrAlaAsnLeuThrSerCysGlnAlaLeuGlyAsnMetCysValMetAsnMetAsnSerTyrAspPheAlaThrPheAspAlaCysGlyLeuPheGlnPheIlePheGluAsnThrAlaGlyLeuSerThrValHisSerIleSerPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071795" }, { "coordinates": [ { "allele": "A", "end": 449, "endIntronDirection": "-", "endIntronOffset": 13610, "referenceAllele": "G", "start": 449, "startIntronDirection": "-", "startIntronOffset": 13611 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XM_011517363.1:c.407-13611G>A" ], "proteinEffect": { "hgvs": "XP_011515665.1:n.407-13611G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS084561" }, { "coordinates": [ { "allele": "A", "end": 733, "referenceAllele": "G", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_428387.1:n.733G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118043" }, { "coordinates": [ { "allele": "A", "end": 733, "referenceAllele": "G", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_928360.1:n.733G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS124765" }, { "coordinates": [ { "allele": "A", "end": 733, "referenceAllele": "G", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_928361.1:n.733G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS124766" }, { "coordinates": [ { "allele": "A", "end": 733, "referenceAllele": "G", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_928362.1:n.733G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS124767" }, { "coordinates": [ { "allele": "A", "end": 584, "referenceAllele": "G", "start": 583 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XM_006716686.4:c.372G>A" ], "proteinEffect": { "hgvs": "XP_006716749.1:p.Trp124Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS539225" }, { "coordinates": [ { "allele": "A", "end": 421, "endIntronDirection": "-", "endIntronOffset": 13610, "referenceAllele": "G", "start": 421, "startIntronDirection": "-", "startIntronOffset": 13611 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XM_011517363.3:c.407-13611G>A" ], "proteinEffect": { "hgvs": "XP_011515665.1:n.407-13611G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS544527" }, { "coordinates": [ { "allele": "A", "end": 432, "referenceAllele": "G", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XM_024447326.1:c.21G>A" ], "proteinEffect": { "hgvs": "XP_024303094.1:p.Trp7Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS580912" }, { "coordinates": [ { "allele": "A", "end": 716, "referenceAllele": "G", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_001745619.2:n.716G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594108" }, { "coordinates": [ { "allele": "A", "end": 716, "referenceAllele": "G", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_428387.2:n.716G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS606547" }, { "coordinates": [ { "allele": "A", "end": 716, "referenceAllele": "G", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_928360.3:n.716G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS608841" }, { "coordinates": [ { "allele": "A", "end": 716, "referenceAllele": "G", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_928362.3:n.716G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS608842" }, { "@id": "http://reg.genome.network/allele/PA144498", "coordinates": [ { "allele": "A", "end": 696, "referenceAllele": "G", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "NM_153704.6:c.675G>A" ], "proteinEffect": { "hgvs": "NP_714915.3:p.Trp225Ter", "hgvsWellDefined": "NP_714915.3:p.Trp225_Ile995delinsPheAlaLysTyrLeuGlnSerSerAlaAlaAlaCysTrpValTyrAlaAsnLeuThrSerCysGlnAlaLeuGlyAsnMetCysValMetAsnMetAsnSerTyrAspPheAlaThrPheAspAlaCysGlyLeuPheGlnPheIlePheGluAsnThrAlaGlyLeuSerThrValHisSerIleSerPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700392", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000453321.8:c.675G>A" }, "RefSeq": { "hgvs": "NM_153704.6:c.675G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389998.3:p.Trp225Ter" }, "RefSeq": { "hgvs": "NP_714915.3:p.Trp225Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 696, "referenceAllele": "G", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "NR_024522.2:n.696G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS701872" } ], "type": "nucleotide" }