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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.[Lys172delinsAsnProProAlaIleThrGlnTyrGlnThrProLeuPheValTer;Ser187_Leu199delinsValLeuIleThrAlaValLeuLeuLeuLeuSerLeuProValLeuAlaAlaGlyIleThrIleLeuLeuThrAspArgAsnLeuAsnThrThrPhePheAspProAlaGlyGlyGlyAspProIleLeuTyrGlnHisLeuPheTer;Val201_Leu202delinsLeuAlaAlaGlyIleThrIleLeuLeuThrAspArgAsnLeuAsnThrThrPhePheAspProAlaGlyGlyGlyAspProIleLeuTyrGlnHisLeuPheTer;Ala204_Gly205delinsGlyIleThrIleLeuLeuThrAspArgAsnLeuAsnThrThrPhePheAspProAlaGlyGlyGlyAspProIleLeuTyrGlnHisLeuPheTer;Ile208_Leu230delinsGlnLeuLeuThrAspArgAsnLeuAsnThrThrPhePheAspProAlaGlyGlyGlyAspProIleLeuTyrGlnHisLeuPheTer;His233_His240delinsThrLeuPheTer;Glu242_Ile245delinsValTyrIleLeuIleLeuProGlyPheGlyIleIleSerHisIleValThrTyrTyrSerGlyLysLysGluProPheGlyTyrIleGlyMetValTer;Ile247_Gly250delinsLeuProGlyPheGlyIleIleSerHisIleValThrTyrTyrSerGlyLysLysGluProPheGlyTyrIleGlyMetValTer;Gly252_Ile257delinsIleIleSerHisIleValThrTyrTyrSerGlyLysLysGluProPheGlyTyrIleGlyMetValTer;Thr259_Val274delinsTyrTyrSerGlyLysLysGluProPheGlyTyrIleGlyMetValTer;Ala276_Phe282delinsMetIleSerIleGlyPheLeuGlyPheIleValTer;Gly284_Ile286delinsPheIleValTer;Ala289_Ile314delinsHisHisIlePheThrValGlyIleAspValAspThrArgAlaTyrPheThrSerAlaThrIleIleIleAlaIleProThrGlyValLysValPheSerTer;Thr316del;Thr326_Ser335delinsLeuHisGlySerAsnMetLysTer;Ala337_Leu342delinsValLeuTer;Phe344delinsIlePheLeuPheThrValGlyGlyLeuThrGlyIleValLeuAlaAsnSerSerLeuAspIleValLeuHisAspThrTyrTyrValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Phe346_Phe348delinsLeuPheThrValGlyGlyLeuThrGlyIleValLeuAlaAsnSerSerLeuAspIleValLeuHisAspThrTyrTyrValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Val350_Gly352delinsIleLeuGlyGlyLeuThrGlyIleValLeuAlaAsnSerSerLeuAspIleValLeuHisAspThrTyrTyrValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Gly355_Val357delinsAspArgAsnIleValLeuAlaAsnSerSerLeuAspIleValLeuHisAspThrTyrTyrValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Ala359delinsAsnSerSerLeuAspIleValLeuHisAspThrTyrTyrValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Ser361_Asp369delinsThrSerLeuAspIleValLeuHisAspThrTyrTyrValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Tyr372_His376delinsValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;His378_Val386delinsTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Ala388_Phe397delinsAspIleIleGlyGlyPheIleHisTer;Leu399_Tyr409delinsPheSerGlyTyrThrLeuAspGlnThrTyrAlaLysIleHisPheThrIleIlePheIleGlyValAsnLeuThrPhePheProGlnHisPheLeuGlyLeuSerGlyMetProArgArgTyrSerAspTyrProAspAlaTyrThrThrTer;Lys411_Ile419delinsIleHisPheThrIleIlePheIleGlyValAsnLeuThrPhePheProGlnHisPheLeuGlyLeuSerGlyMetProArgArgTyrSerAspTyrProAspAlaTyrThrThrTer;Val421_Leu431delinsAsnLeuThrPhePheProGlnHisPheLeuGlyLeuSerGlyMetProArgArgTyrSerAspTyrProAspAlaTyrThrThrTer;Leu433_Ser434delinsSerGlyMetProArgArgTyrSerAspTyrProAspAlaTyrThrThrTer;Met436_Ser441delinsProArgArgTyrSerAspTyrProAspAlaTyrThrThrTer;Tyr443delinsProAspAlaTyrThrThrTer;Asp445_Asn451delinsAlaTyrThrThrTer;Ser455_Leu495delinsValGlySerPheIleSerLeuThrAlaValIleLeuIleIlePheMetIleTer;Gly497_Tyr502delinsGln;Thr504Leu;Glu506_Arg514del]