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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.[Tyr19_Leu36delinsProIleLeuLeuPheGlyAlaTer;Ala39_Gln43delinsArgMetSerTrpSerGluLeuGlyGlnProGlyAsnLeuLeuGlyAsnAspHisIleTyrAsnValIleValThrAlaHisAlaPheValIleIlePhePheIleValIleProIleIleIleGlyGlyPheGlyAsnTer;Gly45_Asp51delinsArgAsnLeuLeuGlyAsnAspHisIleTyrAsnValIleValThrAlaHisAlaPheValIleIlePhePheIleValIleProIleIleIleGlyGlyPheGlyAsnTer;Ile53_Ile71delinsSerSerLysTyrAsnValIleValThrAlaHisAlaPheValIleIlePhePheIleValIleProIleIleIleGlyGlyPheGlyAsnTer;Ile75_Val83delinsGlyGlyPheGlyAsnTer;Leu85_Ile100delinsTyrIleIleGlyAlaProAspMetAlaPheProArgIleAsnAsnIleSerPheTer;Phe102_Pro107delinsTer;Leu111_Ala120delinsPheLeuLeuAlaSerAlaIleValGluAlaGlyAlaGlyThrGlyTer;Gly123_Gly125delinsThrGlyTer;Thr127_Leu132delinsArgValTyrProProLeuAlaGlyAsnTyrSerHisProGlyAlaSerValAspLeuThrIlePheSerLeuHisLeuAlaGlyValSerSerIleLeuGlyAlaIleAsnPheIleThrThrIleIleAsnIleLysProProAlaIleThrGlnTyrGlnThrProLeuPheValTer;Asn135_His138delinsTyrSerHisProGlyAlaSerValAspLeuThrIlePheSerLeuHisLeuAlaGlyValSerSerIleLeuGlyAlaIleAsnPheIleThrThrIleIleAsnIleLysProProAlaIleThrGlnTyrGlnThrProLeuPheValTer;Gly140delinsAlaSerValAspLeuThrIlePheSerLeuHisLeuAlaGlyValSerSerIleLeuGlyAlaIleAsnPheIleThrThrIleIleAsnIleLysProProAlaIleThrGlnTyrGlnThrProLeuPheValTer;Ser142_Asp144delinsArgValAspLeuThrIlePheSerLeuHisLeuAlaGlyValSerSerIleLeuGlyAlaIleAsnPheIleThrThrIleIleAsnIleLysProProAlaIleThrGlnTyrGlnThrProLeuPheValTer;Thr146_Ala153delinsIlePheSerLeuHisLeuAlaGlyValSerSerIleLeuGlyAlaIleAsnPheIleThrThrIleIleAsnIleLysProProAlaIleThrGlnTyrGlnThrProLeuPheValTer;Val155_Leu159delinsGlnProSerSerIleLeuGlyAlaIleAsnPheIleThrThrIleIleAsnIleLysProProAlaIleThrGlnTyrGlnThrProLeuPheValTer;Ala161_Ile162delinsIleAsnPheIleThrThrIleIleAsnIleLysProProAlaIleThrGlnTyrGlnThrProLeuPheValTer;Phe164_Pro182delinsIleThrThrIleIleAsnIleLysProProAlaIleThrGlnTyrGlnThrProLeuPheValTer;Phe184_Val188delinsValTer;Ile190_Ala204delinsThrAlaValLeuLeuLeuLeuSerLeuProValLeuAlaAlaGlyIleThrIleLeuLeuThrAspArgAsnLeuAsnThrThrPhePheAspProAlaGlyGlyGlyAspProIleLeuTyrGlnHisLeuPheTer;Ile206_Arg213delinsThrIleLeuLeuThrAspArgAsnLeuAsnThrThrPhePheAspProAlaGlyGlyGlyAspProIleLeuTyrGlnHisLeuPheTer;Leu215_Phe220delinsAsnThrThrPhePheAspProAlaGlyGlyGlyAspProIleLeuTyrGlnHisLeuPheTer;Pro222_Pro228delinsHisAlaGlyGlyGlyAspProIleLeuTyrGlnHisLeuPheTer;Leu230delinsTyrGlnHisLeuPheTer;Gln232_Glu242delinsAsnHisLeuPheTer;Tyr244delinsIleLeuIleLeuProGlyPheGlyIleIleSerHisIleValThrTyrTyrSerGlyLysLysGluProPheGlyTyrIleGlyMetValTer;Leu246_Ile257delinsIleLeuProGlyPheGlyIleIleSerHisIleValThrTyrTyrSerGlyLysLysGluProPheGlyTyrIleGlyMetValTer;Tyr260_Pro267delinsAlaHisAlaTyrSerGlyLysLysGluProPheGlyTyrIleGlyMetValTer;Gly269_Met273delinsTyrIleGlyMetValTer;Ter275_Met277delinsAlaMetIleSerIleGlyPheLeuGlyPheIleValTer;Ser279delinsIleGlyPheLeuGlyPheIleValTer;Gly281delinsPheLeuGlyPheIleValTer;Leu283_Gly284delinsGlyPheIleValTer;Ter288_His291delinsAlaHisHisIlePheThrValGlyIleAspValAspThrArgAlaTyrPheThrSerAlaThrIleIleIleAlaIleProThrGlyValLysValPheSerTer;Phe293_Gly296delinsProThrValGlyIleAspValAspThrArgAlaTyrPheThrSerAlaThrIleIleIleAlaIleProThrGlyValLysValPheSerTer;Asp298_Thr309delinsValAspThrArgAlaTyrPheThrSerAlaThrIleIleIleAlaIleProThrGlyValLysValPheSerTer;Ile312_Thr316delinsGlyAlaIleProThrGlyValLysValPheSerTer;Val318_Val320delinsLysValPheSerTer;Ser322_His328delinsTer;Ser330delinsAsnMetLysTer;Met332delinsTerGlnPro;Ala336_Val338delinsArgAsnAlaValLeuTer;Ter340_Ala341delinsAlaLeuGlyPheIlePheLeuPheThrValGlyGlyLeuThrGlyIleValLeuAlaAsnSerSerLeuAspIleValLeuHisAspThrTyrTyrValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Phe344_Ala359delinsIlePheLeuPheThrValGlyGlyLeuThrGlyIleValLeuAlaAsnSerSerLeuAspIleValLeuHisAspThrTyrTyrValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Ser362_Leu363delinsLeuAspIleValLeuHisAspThrTyrTyrValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Ile365_Leu367delinsValLeuHisAspThrTyrTyrValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Asp369_Thr370delinsIleThrTyrTyrValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Tyr372delinsAsnValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Val374_Ser382delinsAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Gly384_Ala385delinsAlaValPheAlaIleIleGlyGlyPheIleHisTer;Phe387delinsThrAlaIleIleGlyGlyPheIleHisTer;Ile390_Ile394delinsGlyGlyPheIleHisTer;Ter396_Tyr409delinsPheProLeuPheSerGlyTyrThrLeuAspGlnThrTyrAlaLysIleHisPheThrIleIlePheIleGlyValAsnLeuThrPhePheProGlnHisPheLeuGlyLeuSerGlyMetProArgArgTyrSerAspTyrProAspAlaTyrThrThrTer;Lys411_His413delinsIleHisPheThrIleIlePheIleGlyValAsnLeuThrPhePheProGlnHisPheLeuGlyLeuSerGlyMetProArgArgTyrSerAspTyrProAspAlaTyrThrThrTer;Thr415delinsValIleIlePheIleGlyValAsnLeuThrPhePheProGlnHisPheLeuGlyLeuSerGlyMetProArgArgTyrSerAspTyrProAspAlaTyrThrThrTer;Ile419_Thr424delinsGlyValAsnLeuThrPhePheProGlnHisPheLeuGlyLeuSerGlyMetProArgArgTyrSerAspTyrProAspAlaTyrThrThrTer;Phe426_Asn451delinsProGlnHisPheLeuGlyLeuSerGlyMetProArgArgTyrSerAspTyrProAspAlaTyrThrThrTer;Leu453_Ser455delinsSerSerValGlySerPheIleSerLeuThrAlaValIleLeuIleIlePheMetIleTer;Gly457_Phe459delinsSerPheIleSerLeuThrAlaValIleLeuIleIlePheMetIleTer;Ser461_Val465delinsProLeuThrAlaValIleLeuIleIlePheMetIleTer;Leu467delinsIleIlePheMetIleTer;Phe470_Ala475delinsGlyGlyMetIleTer;Ala477_Ile490delinsGlySerLysArgLysValLeuIleValGluGluProSerIleAsnLeuGluTer;Leu492_Arg514delinsGluTer]