{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA415180271", "communityStandardTitle": [ "NM_000116.5(TAFAZZIN):c.237G>A (p.Trp79Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.153640550G>A?assembly=hg19", "id": "chrX:g.153640550G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.154412213G>A?assembly=hg38", "id": "chrX:g.154412213G>A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-154412213-G-A?dataset=gnomad_r4", "id": "X-154412213-G-A", "variant": "X:154412213 G / A" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 154412213, "referenceAllele": "G", "start": 154412212 } ], "hgvs": [ "NC_000023.11:g.154412213G>A", "CM000685.2:g.154412213G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 153640550, "referenceAllele": "G", "start": 153640549 } ], "hgvs": [ "NC_000023.10:g.153640550G>A", "CM000685.1:g.153640550G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 153293744, "referenceAllele": "G", "start": 153293743 } ], "hgvs": [ "NC_000023.9:g.153293744G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 5674, "referenceAllele": "G", "start": 5673 } ], "hgvs": [ "NG_009634.1:g.5674G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001624" }, { "coordinates": [ { "allele": "T", "end": 4876, "referenceAllele": "C", "start": 4875 } ], "hgvs": [ "NG_012884.2:g.4876C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002608" }, { "coordinates": [ { "allele": "A", "end": 5679, "referenceAllele": "G", "start": 5678 } ], "hgvs": [ "NG_009634.2:g.5679G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706097" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 665, "referenceAllele": "G", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000698234.1:n.665G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS909245" }, { "coordinates": [ { "allele": "A", "end": 224, "referenceAllele": "G", "start": 223 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000698235.1:n.224G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS909246" }, { "coordinates": [ { "allele": "A", "end": 199, "referenceAllele": "G", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000698317.1:n.199G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS909309" }, { "coordinates": [ { "allele": "A", "end": 60, "referenceAllele": "G", "start": 59 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000698318.1:n.60G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS909310" }, { "coordinates": [ { "allele": "A", "end": 582, "referenceAllele": "G", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000475699.6:c.291G>A" ], "proteinEffect": { "hgvs": "ENSP00000419854.3:p.Trp97Ter", "hgvsWellDefined": "ENSP00000419854.3:p.Trp97_Arg280delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757161" }, { "coordinates": [ { "allele": "A", "end": 202, "referenceAllele": "G", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000476800.2:n.202G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757202" }, { "coordinates": [ { "allele": "A", "end": 128, "referenceAllele": "G", "start": 127 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000483674.3:n.128G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757444" }, { "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "G", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000601016.6:c.237G>A" ], "proteinEffect": { "hgvs": "ENSP00000469981.1:p.Trp79Ter", "hgvsWellDefined": "ENSP00000469981.1:p.Trp79_Arg292delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761529", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000601016.6:c.237G>A" }, "RefSeq": { "hgvs": "NM_000116.5:c.237G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000469981.1:p.Trp79Ter" }, "RefSeq": { "hgvs": "NP_000107.1:p.Trp79Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 431, "referenceAllele": "G", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000612012.5:c.237G>A" ], "proteinEffect": { "hgvs": "ENSP00000482070.2:p.Trp79Ter", "hgvsWellDefined": "ENSP00000482070.2:p.Trp79_Arg278delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761855" }, { "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "G", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000612460.5:c.237G>A" ], "proteinEffect": { "hgvs": "ENSP00000481037.1:p.Trp79Ter", "hgvsWellDefined": "ENSP00000481037.1:p.Trp79_Arg262delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761877" }, { "coordinates": [ { "allele": "A", "end": 595, "referenceAllele": "G", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000614595.2:n.595G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS761975" }, { "coordinates": [ { "allele": "A", "end": 550, "referenceAllele": "G", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000615658.5:n.550G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762024" }, { "coordinates": [ { "allele": "A", "end": 291, "referenceAllele": "G", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000616020.5:c.291G>A" ], "proteinEffect": { "hgvs": "ENSP00000483636.2:p.Trp97Ter", "hgvsWellDefined": "ENSP00000483636.2:p.Trp97_Arg296delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762043" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000617701.5:c.237G>A" ], "proteinEffect": { "hgvs": "ENSP00000481645.1:p.Trp79Ter", "hgvsWellDefined": "ENSP00000481645.1:p.Trp79_Trp95delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762134" }, { "coordinates": [ { "allele": "A", "end": 290, "referenceAllele": "G", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000621647.2:n.290G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS762335" }, { "coordinates": [ { "allele": "A", "end": 55, "endIntronDirection": "+", "endIntronOffset": 261, "referenceAllele": "G", "start": 55, "startIntronDirection": "+", "startIntronOffset": 260 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000652358.1:c.-57+261G>A" ], "proteinEffect": { "hgvs": "ENSP00000498464.1:n.-57+261G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS772163" }, { "coordinates": [ { "allele": "A", "end": 156, "referenceAllele": "G", "start": 155 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000652390.1:c.156G>A" ], "proteinEffect": { "hgvs": "ENSP00000498858.1:p.Trp52Ter", "hgvsWellDefined": "ENSP00000498858.1:p.Trp52_Arg265delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772182" }, { "coordinates": [ { "allele": "A", "end": 398, "referenceAllele": "G", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000652476.1:n.398G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772231" }, { "coordinates": [ { "allele": "A", "end": 531, "referenceAllele": "G", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000652682.1:c.237G>A" ], "proteinEffect": { "hgvs": "ENSP00000498288.1:p.Trp79Ter", "hgvsWellDefined": "ENSP00000498288.1:p.Trp79_Arg311delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysAlaSerProGlyPheGlnProAlaArgSerSerGlnHisTrpLeuGlnLysGluGlyGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772349" }, { "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000652685.1:n.289G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772351" }, { "coordinates": [ { "allele": "A", "end": 248, "endIntronDirection": "+", "endIntronOffset": 207, "referenceAllele": "G", "start": 248, "startIntronDirection": "+", "startIntronOffset": 206 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000369776.8:c.163+207G>A" ], "proteinEffect": { "hgvs": "ENSP00000358791.4:n.163+207G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS267699" }, { "coordinates": [ { "allele": "A", "end": 53, "referenceAllele": "G", "start": 52 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000426231.5:c.53G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS289127" }, { "coordinates": [ { "allele": "A", "end": 251, "referenceAllele": "G", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000439735.2:c.237G>A" ], "proteinEffect": { "hgvs": "ENSP00000398193.1:p.Trp79Ter", "hgvsWellDefined": "ENSP00000398193.1:p.Trp79Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS295575" }, { "coordinates": [ { "allele": "A", "end": 540, "referenceAllele": "G", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000475699.5:c.237G>A" ], "proteinEffect": { "hgvs": "ENSP00000419854.2:p.Trp79Ter", "hgvsWellDefined": "ENSP00000419854.2:p.Trp79_Arg278delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS316922" }, { "coordinates": [ { "allele": "A", "end": 11, "referenceAllele": "G", "start": 10 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000483780.5:n.11G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS323178" }, { "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "G", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000601016.5:c.237G>A" ], "proteinEffect": { "hgvs": "ENSP00000469981.1:p.Trp79Ter", "hgvsWellDefined": "ENSP00000469981.1:p.Trp79_Arg292delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS397544" }, { "coordinates": [ { "allele": "A", "end": 579, "referenceAllele": "G", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000612012.4:c.291G>A" ], "proteinEffect": { "hgvs": "ENSP00000482070.1:p.Trp97Ter", "hgvsWellDefined": "ENSP00000482070.1:p.Trp97Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS401117" }, { "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "G", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000612460.4:c.237G>A" ], "proteinEffect": { "hgvs": "ENSP00000481037.1:p.Trp79Ter", "hgvsWellDefined": "ENSP00000481037.1:p.Trp79_Arg262delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401315" }, { "coordinates": [ { "allele": "A", "end": 540, "referenceAllele": "G", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000613002.4:c.237G>A" ], "proteinEffect": { "hgvs": "ENSP00000478154.1:p.Trp79Ter", "hgvsWellDefined": "ENSP00000478154.1:p.Trp79_Arg248delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401555" }, { "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "G", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000613634.4:n.557G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS401832" }, { "coordinates": [ { "allele": "A", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000614595.1:n.456G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS402268" }, { "coordinates": [ { "allele": "A", "end": 563, "referenceAllele": "G", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000615658.4:n.563G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS402711" }, { "coordinates": [ { "allele": "A", "end": 520, "referenceAllele": "G", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000615986.4:c.237G>A" ], "proteinEffect": { "hgvs": "ENSP00000480133.1:p.Trp79Ter", "hgvsWellDefined": "ENSP00000480133.1:p.Trp79_Trp95delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402857" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "G", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000616020.4:c.291G>A" ], "proteinEffect": { "hgvs": "ENSP00000483636.1:p.Trp97Ter", "hgvsWellDefined": "ENSP00000483636.1:p.Trp97Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS402877" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000617701.4:c.237G>A" ], "proteinEffect": { "hgvs": "ENSP00000481645.1:p.Trp79Ter", "hgvsWellDefined": "ENSP00000481645.1:p.Trp79_Trp95delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403592" }, { "coordinates": [ { "allele": "A", "end": 507, "referenceAllele": "G", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000620808.4:c.237G>A" ], "proteinEffect": { "hgvs": "ENSP00000479311.1:p.Trp79Ter", "hgvsWellDefined": "ENSP00000479311.1:p.Trp79_Trp95delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404991" }, { "coordinates": [ { "allele": "A", "end": 522, "referenceAllele": "G", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "ENST00000621647.1:n.522G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS405367" }, { "@id": "http://reg.genome.network/allele/PA2825042892", "coordinates": [ { "allele": "A", "end": 563, "referenceAllele": "G", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "NM_000116.4:c.237G>A" ], "proteinEffect": { "hgvs": "NP_000107.1:p.Trp79Ter", "hgvsWellDefined": "NP_000107.1:p.Trp79_Arg292delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006178" }, { "@id": "http://reg.genome.network/allele/PA2826883903", "coordinates": [ { "allele": "A", "end": 617, "referenceAllele": "G", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "NM_001303465.1:c.291G>A" ], "proteinEffect": { "hgvs": "NP_001290394.1:p.Trp97Ter", "hgvsWellDefined": "NP_001290394.1:p.Trp97_Arg296delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025541" }, { "@id": "http://reg.genome.network/allele/PA2830387304", "coordinates": [ { "allele": "A", "end": 563, "referenceAllele": "G", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "NM_181311.3:c.237G>A" ], "proteinEffect": { "hgvs": "NP_851828.1:p.Trp79Ter", "hgvsWellDefined": "NP_851828.1:p.Trp79_Arg262delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043677" }, { "@id": "http://reg.genome.network/allele/PA2830387557", "coordinates": [ { "allele": "A", "end": 563, "referenceAllele": "G", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "NM_181312.3:c.237G>A" ], "proteinEffect": { "hgvs": "NP_851829.1:p.Trp79Ter", "hgvsWellDefined": "NP_851829.1:p.Trp79_Arg278delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043678" }, { "@id": "http://reg.genome.network/allele/PA2830387790", "coordinates": [ { "allele": "A", "end": 563, "referenceAllele": "G", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "NM_181313.3:c.237G>A" ], "proteinEffect": { "hgvs": "NP_851830.1:p.Trp79Ter", "hgvsWellDefined": "NP_851830.1:p.Trp79_Arg248delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043679" }, { "coordinates": [ { "allele": "A", "end": 563, "referenceAllele": "G", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "NR_024048.2:n.563G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS046722" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "G", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "XM_006724836.1:c.291G>A" ], "proteinEffect": { "hgvs": "XP_006724899.1:p.Trp97Ter", "hgvsWellDefined": "XP_006724899.1:p.Trp97_Arg310delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075736" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "G", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "XM_006724837.1:c.291G>A" ], "proteinEffect": { "hgvs": "XP_006724900.1:p.Trp97Ter", "hgvsWellDefined": "XP_006724900.1:p.Trp97_Arg305delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyGluProGlyAspGlyAspArgGluMetAlaSerGlyValGlyGlyLeuGlyLeuProLeuValProGlyCysProAlaProProHisValTrpProSerValHisCysAlaAlaGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075737" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "G", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "XM_006724839.1:c.291G>A" ], "proteinEffect": { "hgvs": "XP_006724902.1:p.Trp97Ter", "hgvsWellDefined": "XP_006724902.1:p.Trp97_Arg266delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075738" }, { "coordinates": [ { "allele": "A", "end": 221, "referenceAllele": "G", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "XM_006724841.2:c.-58G>A" ], "proteinEffect": { "hgvs": "XP_006724904.1:n.-58G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS075739" }, { "coordinates": [ { "allele": "A", "end": 221, "referenceAllele": "G", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "XM_006724842.2:c.-58G>A" ], "proteinEffect": { "hgvs": "XP_006724905.1:n.-58G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS075740" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "G", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "XM_011531189.1:c.291G>A" ], "proteinEffect": { "hgvs": "XP_011529491.1:p.Trp97Ter", "hgvsWellDefined": "XP_011529491.1:p.Trp97_Arg239delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098229" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "G", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "XR_938511.1:n.594G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS133209" }, { "coordinates": [ { "allele": "A", "end": 431, "referenceAllele": "G", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "XM_006724841.4:c.-58G>A" ], "proteinEffect": { "hgvs": "XP_006724904.1:n.-58G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS541081" }, { "coordinates": [ { "allele": "A", "end": 431, "referenceAllele": "G", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "XM_006724842.4:c.-58G>A" ], "proteinEffect": { "hgvs": "XP_006724905.1:n.-58G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS541082" }, { "coordinates": [ { "allele": "A", "end": 540, "referenceAllele": "G", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "XM_017029761.1:c.237G>A" ], "proteinEffect": { "hgvs": "XP_016885250.1:p.Trp79Ter", "hgvsWellDefined": "XP_016885250.1:p.Trp79_Arg287delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyGluProGlyAspGlyAspArgGluMetAlaSerGlyValGlyGlyLeuGlyLeuProLeuValProGlyCysProAlaProProHisValTrpProSerValHisCysAlaAlaGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579256" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "G", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "XM_017029762.1:c.291G>A" ], "proteinEffect": { "hgvs": "XP_016885251.1:p.Trp97Ter", "hgvsWellDefined": "XP_016885251.1:p.Trp97_Arg280delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579257" }, { "coordinates": [ { "allele": "A", "end": 540, "referenceAllele": "G", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "XM_017029763.1:c.237G>A" ], "proteinEffect": { "hgvs": "XP_016885252.1:p.Trp79Ter", "hgvsWellDefined": "XP_016885252.1:p.Trp79_Arg221delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579258" }, { "coordinates": [ { "allele": "A", "end": 431, "referenceAllele": "G", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "XM_017029765.2:c.-58G>A" ], "proteinEffect": { "hgvs": "XP_016885254.1:n.-58G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS579260" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "G", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "XM_024452431.1:c.291G>A" ], "proteinEffect": { "hgvs": "XP_024308199.1:p.Trp97Ter", "hgvsWellDefined": "XP_024308199.1:p.Trp97_Arg278delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyGluProGlyAspGlyAspArgGluMetAlaSerGlyValGlyGlyLeuGlyLeuProLeuValProGlyCysProAlaProProHisValTrpProSerValHisCysAlaAlaGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585924" }, { "@id": "http://reg.genome.network/allele/PA2825042892", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "G", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "NM_000116.5:c.237G>A" ], "proteinEffect": { "hgvs": "NP_000107.1:p.Trp79Ter", "hgvsWellDefined": "NP_000107.1:p.Trp79_Arg292delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662320", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000601016.6:c.237G>A" }, "RefSeq": { "hgvs": "NM_000116.5:c.237G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000469981.1:p.Trp79Ter" }, "RefSeq": { "hgvs": "NP_000107.1:p.Trp79Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826883903", "coordinates": [ { "allele": "A", "end": 596, "referenceAllele": "G", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "NM_001303465.2:c.291G>A" ], "proteinEffect": { "hgvs": "NP_001290394.1:p.Trp97Ter", "hgvsWellDefined": "NP_001290394.1:p.Trp97_Arg296delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683598" }, { "@id": "http://reg.genome.network/allele/PA2830387304", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "G", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "NM_181311.4:c.237G>A" ], "proteinEffect": { "hgvs": "NP_851828.1:p.Trp79Ter", "hgvsWellDefined": "NP_851828.1:p.Trp79_Arg262delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700929" }, { "@id": "http://reg.genome.network/allele/PA2830387557", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "G", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "NM_181312.4:c.237G>A" ], "proteinEffect": { "hgvs": "NP_851829.1:p.Trp79Ter", "hgvsWellDefined": "NP_851829.1:p.Trp79_Arg278delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700930" }, { "@id": "http://reg.genome.network/allele/PA2830387790", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "G", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "NM_181313.4:c.237G>A" ], "proteinEffect": { "hgvs": "NP_851830.1:p.Trp79Ter", "hgvsWellDefined": "NP_851830.1:p.Trp79_Arg248delinsGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700931" }, { "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "G", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "NR_024048.3:n.542G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS701850" } ], "type": "nucleotide" }