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Canonical Allele Identifier: Get Identifier
Gene: MT-CO1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000354499.2:p.[Ile208delinsThrLeuLeuThrAspArgAsnLeuAsnThrThrPhePheAspProAlaGlyGlyGlyAspProIleLeuTyrGlnHisLeuPheTer;Phe237_Ile245delinsThrAsnArgAsnPheGlyHisProGluValTyrIleLeuIleLeuProGlyPheGlyIleIleSerHisIleValThrTyrTyrSerGlyLysLysGluProPheGlyTyrIleGlyMetValTer;Ile247_Gly250delinsAsnThrThrPheLeuProGlyPheGlyIleIleSerHisIleValThrTyrTyrSerGlyLysLysGluProPheGlyTyrIleGlyMetValTer;Gly252_Ser262delinsAspProAlaIleIleSerHisIleValThrTyrTyrSerGlyLysLysGluProPheGlyTyrIleGlyMetValTer;Lys265_Phe268delinsGluProPheGlyTyrIleGlyMetValTer;Tyr270_Ile271delinsIleGlyMetValTer;Met273_Met277delinsAspProValTer;Ser279_Phe282delinsLeuTyrGlnHisIleGlyPheLeuGlyPheIleValTer;Gly284delinsPheIleValTer;Ile286_Val287delinsValTer;Ala289_Thr301delinsHisHisIlePheThrValGlyIleAspValAspThrArgAlaTyrPheThrSerAlaThrIleIleIleAlaIleProThrGlyValLysValPheSerTer;Ala303_Ile314delinsProGlnTyrPheThrSerAlaThrIleIleIleAlaIleProThrGlyValLysValPheSerTer;Thr316delinsGlnHisHisLeu;Ala325_Thr326delinsArgThrLeuHisGlySerAsnMetLysTer;His328_Ser330delinsGlySerAsnMetLysTer;Met332_Gly343delinsThrThrLysTer;Ile345delinsPheLeuPheThrValGlyGlyLeuThrGlyIleValLeuAlaAsnSerSerLeuAspIleValLeuHisAspThrTyrTyrValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Leu347_Val350delinsAspProAlaPheThrValGlyGlyLeuThrGlyIleValLeuAlaAsnSerSerLeuAspIleValLeuHisAspThrTyrTyrValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Leu353_Thr354delinsThrGlyIleValLeuAlaAsnSerSerLeuAspIleValLeuHisAspThrTyrTyrValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Ile356_Asp364delinsAspProValLeuAlaAsnSerSerLeuAspIleValLeuHisAspThrTyrTyrValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Val366delinsLeuHisAspThrTyrTyrValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;His368_Thr370delinsAspThrTyrTyrValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Tyr372_Ala375delinsGlnValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Phe377_Val380delinsHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Ser382_Val386delinsIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Ala388_His395delinsIleIleGlyGlyPheIleHisTer;Phe397delinsProLeuPheSerGlyTyrThrLeuAspGlnThrTyrAlaLysIleHisPheThrIleIlePheIleGlyValAsnLeuThrPhePheProGlnHisPheLeuGlyLeuSerGlyMetProArgArgTyrSerAspTyrProAspAlaTyrThrThrTer;Leu399_Ile419delinsArgArgArgArgArgPheSerGlyTyrThrLeuAspGlnThrTyrAlaLysIleHisPheThrIleIlePheIleGlyValAsnLeuThrPhePheProGlnHisPheLeuGlyLeuSerGlyMetProArgArgTyrSerAspTyrProAspAlaTyrThrThrTer;Val421_Leu431delinsAsnLeuThrPhePheProGlnHisPheLeuGlyLeuSerGlyMetProArgArgTyrSerAspTyrProAspAlaTyrThrThrTer;Leu433_Ser434delinsSerGlyMetProArgArgTyrSerAspTyrProAspAlaTyrThrThrTer;Met436_Ser441delinsProArgArgTyrSerAspTyrProAspAlaTyrThrThrTer;Tyr443delinsProAspAlaTyrThrThrTer;Asp445_Asn451delinsAlaTyrThrThrTer;Ser454_Ser461delinsTyrGlnHisSerValGlySerPheIleSerLeuThrAlaValIleLeuIleIlePheMetIleTer;Thr463_Ile469delinsAlaValIleLeuIleIlePheMetIleTer;Met471_Ile472delinsIleTer;Glu474_Ala477delinsProHisAlaPheAlaSerLysArgLysValLeuIleValGluGluProSerIleAsnLeuGluTer;Lys479_Leu483delinsArgLysValLeuIleValGluGluProSerIleAsnLeuGluTer;Val485_Glu487delinsProThrGluGluProSerIleAsnLeuGluTer;Ser489delinsIleAsnLeuGluTer;Asn491delinsLeuGluTer;Glu493Ile;Gly497_Tyr502delinsGln;Thr504Leu;Glu506_Arg514del]