{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4807782", "communityStandardTitle": [ "NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=266592[alleleid]", "alleleId": 266592, "preferredName": "NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/282355", "RCV": [ "RCV000400090", "RCV002518850", "RCV002487195" ], "variationId": 282355 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/8-94792969-C-A", "id": "8-94792969-C-A", "variant": "8:94792969 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.94792969C>A?assembly=hg19", "id": "chr8:g.94792969C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.93780741C>A?assembly=hg38", "id": "chr8:g.93780741C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/769957689", "rs": 769957689 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-94792969-C-A?dataset=gnomad_r2_1", "id": "8-94792969-C-A", "variant": "8:94792969 C / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-93780741-C-A?dataset=gnomad_r3", "id": "8-93780741-C-A", "variant": "8:93780741 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-93780741-C-A?dataset=gnomad_r4", "id": "8-93780741-C-A", "variant": "8:93780741 C / A" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 93780741, "referenceAllele": "C", "start": 93780740 } ], "hgvs": [ "NC_000008.11:g.93780741C>A", "CM000670.2:g.93780741C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 94792969, "referenceAllele": "C", "start": 94792968 } ], "hgvs": [ "NC_000008.10:g.94792969C>A", "CM000670.1:g.94792969C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 94862145, "referenceAllele": "C", "start": 94862144 } ], "hgvs": [ "NC_000008.9:g.94862145C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "A", "end": 30898, "referenceAllele": "C", "start": 30897 } ], "hgvs": [ "NG_009190.1:g.30898C>A", "LRG_688:g.30898C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001468" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 863, "referenceAllele": "C", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000323130.8:c.863C>A" ], "proteinEffect": { "hgvs": "ENSP00000314488.4:p.Ser288Ter", "hgvsWellDefined": "ENSP00000314488.4:p.Ser288_Ile995delinsPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS823873" }, { "coordinates": [ { "allele": "A", "end": 879, "referenceAllele": "C", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000409623.8:c.863C>A" ], "proteinEffect": { "hgvs": "ENSP00000386966.4:p.Ser288Ter", "hgvsWellDefined": "ENSP00000386966.4:p.Ser288_Ile980delinsPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824612" }, { "coordinates": [ { "allele": "A", "end": 863, "referenceAllele": "C", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000452276.6:c.863C>A" ], "proteinEffect": { "hgvs": "ENSP00000388671.2:p.Ser288Ter", "hgvsWellDefined": "ENSP00000388671.2:p.Ser288_Ile956delinsPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825032" }, { "coordinates": [ { "allele": "A", "end": 427, "endIntronDirection": "-", "endIntronOffset": 5481, "referenceAllele": "C", "start": 427, "startIntronDirection": "-", "startIntronOffset": 5482 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000453906.6:c.407-5482C>A" ], "proteinEffect": { "hgvs": "ENSP00000403035.2:n.407-5482C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS825047" }, { "coordinates": [ { "allele": "A", "end": 868, "referenceAllele": "C", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000520680.2:c.863C>A" ], "proteinEffect": { "hgvs": "ENSP00000428785.2:p.Ser288Ter", "hgvsWellDefined": "ENSP00000428785.2:p.Ser288_Ile1036delinsPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspThrGluPheCysThrCysCysProGlyTrpSerAlaMetAlaArgSerTrpLeuThrAlaThrSerAlaSerArgValGlnAlaIleLeuLeuSerGlnProProGluTyrLeuGlyLeuGlnIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825660" }, { "coordinates": [ { "allele": "A", "end": 1018, "referenceAllele": "C", "start": 1017 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000521065.2:c.*580C>A" ], "proteinEffect": { "hgvs": "ENSP00000427947.2:n.*580C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS825666" }, { "coordinates": [ { "allele": "A", "end": 863, "referenceAllele": "C", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000521517.6:c.863C>A" ], "proteinEffect": { "hgvs": "ENSP00000430740.2:p.Ser288Ter", "hgvsWellDefined": "ENSP00000430740.2:p.Ser288_Ile962delinsPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825670" }, { "coordinates": [ { "allele": "A", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000681998.1:c.793C>A" ], "proteinEffect": { "hgvs": "ENSP00000506773.1:n.793C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS826997" }, { "coordinates": [ { "allele": "A", "end": 427, "endIntronDirection": "-", "endIntronOffset": 5481, "referenceAllele": "C", "start": 427, "startIntronDirection": "-", "startIntronOffset": 5482 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000682036.1:c.407-5482C>A" ], "proteinEffect": { "hgvs": "ENSP00000508390.1:n.407-5482C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827034" }, { "coordinates": [ { "allele": "A", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000682577.1:c.793C>A" ], "proteinEffect": { "hgvs": "ENSP00000506963.1:n.793C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827567" }, { "coordinates": [ { "allele": "A", "end": 725, "referenceAllele": "C", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000682624.1:c.*437C>A" ], "proteinEffect": { "hgvs": "ENSP00000508343.1:n.*437C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827613" }, { "coordinates": [ { "allele": "A", "end": 863, "referenceAllele": "C", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000682700.1:c.863C>A" ], "proteinEffect": { "hgvs": "ENSP00000507627.1:p.Ser288Ter", "hgvsWellDefined": "ENSP00000507627.1:p.Ser288_Cys961delinsPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnGluMetHisAspGlnAsnAspLeuGluThrThrAlaSerGluArgArgAspArgThrThrAlaLeuGlnProGlyGlyGlnSerLysThrProSerGlnLysLysArgArgAsnHisCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827689" }, { "coordinates": [ { "allele": "A", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000682744.1:n.401C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827733" }, { "coordinates": [ { "allele": "A", "end": 686, "referenceAllele": "C", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000682804.1:n.686C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827793" }, { "coordinates": [ { "allele": "A", "end": 618, "referenceAllele": "C", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000682837.1:c.618C>A" ], "proteinEffect": { "hgvs": "ENSP00000507920.1:n.618C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827825" }, { "coordinates": [ { "allele": "A", "end": 2423, "referenceAllele": "C", "start": 2422 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000682935.1:n.2423C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827923" }, { "coordinates": [ { "allele": "A", "end": 545, "referenceAllele": "C", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000682984.1:c.524C>A" ], "proteinEffect": { "hgvs": "ENSP00000507209.1:p.Ser175Ter", "hgvsWellDefined": "ENSP00000507209.1:p.Ser175_Ile882delinsPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827971" }, { "coordinates": [ { "allele": "A", "end": 618, "referenceAllele": "C", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000683078.1:c.618C>A" ], "proteinEffect": { "hgvs": "ENSP00000506796.1:n.618C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828063" }, { "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "C", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000683223.1:c.704C>A" ], "proteinEffect": { "hgvs": "ENSP00000507685.1:n.704C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828205" }, { "coordinates": [ { "allele": "A", "end": 2244, "referenceAllele": "C", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ 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"proteinEffect": { "hgvs": "ENSP00000506985.1:p.Ser175Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS828342" }, { "coordinates": [ { "allele": "A", "end": 786, "referenceAllele": "C", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000683850.1:n.786C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828817" }, { "coordinates": [ { "allele": "A", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000683919.1:c.793C>A" ], "proteinEffect": { "hgvs": "ENSP00000507617.1:n.793C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828885" }, { "coordinates": [ { "allele": "A", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000683953.1:c.774C>A" ], "proteinEffect": { "hgvs": 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"ENSP00000508192.1:p.Ser185_Ile892delinsPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829023" }, { "coordinates": [ { "allele": "A", "end": 2413, "referenceAllele": "C", "start": 2412 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000684089.1:n.2413C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829048" }, { "coordinates": [ { "allele": "A", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000684149.1:c.*199C>A" ], "proteinEffect": { "hgvs": "ENSP00000507943.1:n.*199C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829107" }, { "coordinates": [ { "allele": "A", "end": 822, "referenceAllele": "C", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000684416.1:n.822C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829371" }, { "coordinates": [ { "allele": "A", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000684540.1:c.793C>A" ], "proteinEffect": { "hgvs": "ENSP00000507987.1:n.793C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829493" }, { "coordinates": [ { "allele": "A", "end": 884, "referenceAllele": "C", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000453321.8:c.863C>A" ], "proteinEffect": { "hgvs": "ENSP00000389998.3:p.Ser288Ter", "hgvsWellDefined": "ENSP00000389998.3:p.Ser288_Ile995delinsPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756420", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000453321.8:c.863C>A" }, "RefSeq": { "hgvs": "NM_153704.6:c.863C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389998.3:p.Ser288Ter" }, "RefSeq": { "hgvs": "NP_714915.3:p.Ser288Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000323130.7:c.833C>A" ], "proteinEffect": { "hgvs": "ENSP00000314488.3:p.Ser278Ter", "hgvsWellDefined": "ENSP00000314488.3:p.Ser278_Ile985delinsPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258176" }, { "coordinates": [ { "allele": "A", "end": 822, "referenceAllele": "C", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000409623.7:c.620C>A" ], "proteinEffect": { "hgvs": "ENSP00000386966.3:p.Ser207Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS281708" }, { "coordinates": [ { "allele": "A", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000425545.2:n.310C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS288811" }, { "coordinates": [ { "allele": "A", "end": 824, "referenceAllele": "C", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000452276.5:c.554C>A" ], "proteinEffect": { "hgvs": "ENSP00000388671.1:p.Ser185Ter", "hgvsWellDefined": "ENSP00000388671.1:p.Ser185_Ala397del" }, "referenceSequence": "http://reg.genome.network/refseq/RS301555" }, { "coordinates": [ { "allele": "A", "end": 921, "referenceAllele": "C", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000453321.7:c.863C>A" ], "proteinEffect": { "hgvs": "ENSP00000389998.3:p.Ser288Ter", "hgvsWellDefined": "ENSP00000389998.3:p.Ser288_Ile995delinsPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302051" }, { "coordinates": [ { "allele": "A", "end": 426, "endIntronDirection": "-", "endIntronOffset": 5481, "referenceAllele": "C", "start": 426, "startIntronDirection": "-", "startIntronOffset": 5482 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000453906.5:c.407-5482C>A" ], "proteinEffect": { "hgvs": "ENSP00000403035.1:n.407-5482C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS302328" }, { "coordinates": [ { "allele": "A", "end": 426, "endIntronDirection": "-", "endIntronOffset": 5481, "referenceAllele": "C", "start": 426, "startIntronDirection": "-", "startIntronOffset": 5482 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000474944.5:n.427-5482C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316339" }, { "coordinates": [ { "allele": "A", "end": 328, "referenceAllele": "C", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "ENST00000496213.5:n.328C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS332744" }, { "@id": "http://reg.genome.network/allele/PA2825843036", "coordinates": [ { "allele": "A", "end": 865, "referenceAllele": "C", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "NM_001142301.1:c.620C>A", "LRG_688t2:c.620C>A" ], "proteinEffect": { "hgvs": "NP_001135773.1:p.Ser207Ter", "hgvsWellDefined": "NP_001135773.1:p.Ser207_Ile914delinsPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012819" }, { "@id": "http://reg.genome.network/allele/PA645509927", "coordinates": [ { "allele": "A", "end": 934, "referenceAllele": "C", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "NM_153704.5:c.863C>A", "LRG_688t1:c.863C>A" ], "proteinEffect": { "hgvs": "NP_714915.3:p.Ser288Ter", "hgvsWellDefined": "NP_714915.3:p.Ser288_Ile995delinsPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042476" }, { "coordinates": [ { "allele": "A", "end": 934, "referenceAllele": "C", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "NR_024522.1:n.934C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS047028" }, { "coordinates": [ { "allele": "A", "end": 769, "referenceAllele": "C", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XM_006716686.2:c.560C>A" ], "proteinEffect": { "hgvs": "XP_006716749.1:p.Ser187Ter", "hgvsWellDefined": "XP_006716749.1:p.Ser187_Ile894delinsPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071794" }, { "coordinates": [ { "allele": "A", "end": 278, "referenceAllele": "C", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XM_006716687.2:c.263C>A" ], "proteinEffect": { "hgvs": "XP_006716750.1:p.Ser88Ter", "hgvsWellDefined": "XP_006716750.1:p.Ser88_Ile795delinsPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071795" }, { "coordinates": [ { "allele": "A", "end": 449, "endIntronDirection": "-", "endIntronOffset": 5481, "referenceAllele": "C", "start": 449, "startIntronDirection": "-", "startIntronOffset": 5482 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XM_011517363.1:c.407-5482C>A" ], "proteinEffect": { "hgvs": "XP_011515665.1:n.407-5482C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS084561" }, { "coordinates": [ { "allele": "A", "end": 921, "referenceAllele": "C", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_428387.1:n.921C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118043" }, { "coordinates": [ { "allele": "A", "end": 921, "referenceAllele": "C", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, 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"hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS580912" }, { "coordinates": [ { "allele": "A", "end": 904, "referenceAllele": "C", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_001745619.2:n.904C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594108" }, { "coordinates": [ { "allele": "A", "end": 904, "referenceAllele": "C", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_428387.2:n.904C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS606547" }, { "coordinates": [ { "allele": "A", "end": 904, "referenceAllele": "C", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_928360.3:n.904C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS608841" }, { "coordinates": [ { "allele": "A", "end": 904, "referenceAllele": "C", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "XR_928362.3:n.904C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS608842" }, { "@id": "http://reg.genome.network/allele/PA645509927", "coordinates": [ { "allele": "A", "end": 884, "referenceAllele": "C", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "NM_153704.6:c.863C>A" ], "proteinEffect": { "hgvs": "NP_714915.3:p.Ser288Ter", "hgvsWellDefined": "NP_714915.3:p.Ser288_Ile995delinsPheTrpArgGlnAsnLeuProTrpLeuPheTyrGlyAspGlnLeuGlyLeuAlaProGlnValLeuSerSerThrSerLeuProThrAsnPheSerPheLysGlyGluAsnGlnAsnThrLysLeuLysPheValAlaAlaSerTyrAspIleArgGlyAsnPheLeuLysTrpGlnThrLeuGluGlyGlyValLeuGlnLeuCysProAspThrGluThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700392", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000453321.8:c.863C>A" }, "RefSeq": { "hgvs": "NM_153704.6:c.863C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389998.3:p.Ser288Ter" }, "RefSeq": { "hgvs": "NP_714915.3:p.Ser288Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 884, "referenceAllele": "C", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN028396", "geneNCBI_id": 91147, "geneSymbol": "TMEM67", "hgvs": [ "NR_024522.2:n.884C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS701872" } ], "type": "nucleotide" }