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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.[Phe8_Thr17delinsSerThrAsnHisLysAspIleGlyThrLeuTyrLeuLeuPheGlyAlaTer;Leu20_Ile37delinsLysProGlnLeuPheGlyAlaTer;Ala39_Asp51delinsGluLeuGlyGlnProGlyAsnLeuLeuGlyAsnAspHisIleTyrAsnValIleValThrAlaHisAlaPheValIleIlePhePheIleValIleProIleIleIleGlyGlyPheGlyAsnTer;Ile53_Tyr54delinsTrpTyrAsnValIleValThrAlaHisAlaPheValIleIlePhePheIleValIleProIleIleIleGlyGlyPheGlyAsnTer;Val56_Ile100delinsIleValThrAlaHisAlaPheValIleIlePhePheIleValIleProIleIleIleGlyGlyPheGlyAsnTer;Phe102_Gly123delinsTer;Gly125_Gly134delinsTer;Tyr136_Ser137delinsSerHisProGlyAlaSerValAspLeuThrIlePheSerLeuHisLeuAlaGlyValSerSerIleLeuGlyAlaIleAsnPheIleThrThrIleIleAsnIleLysProProAlaIleThrGlnTyrGlnThrProLeuPheValTer;Pro139_Val143delinsLysGlyAlaSerValAspLeuThrIlePheSerLeuHisLeuAlaGlyValSerSerIleLeuGlyAlaIleAsnPheIleThrThrIleIleAsnIleLysProProAlaIleThrGlnTyrGlnThrProLeuPheValTer;Leu145_Thr146delinsThrIlePheSerLeuHisLeuAlaGlyValSerSerIleLeuGlyAlaIleAsnPheIleThrThrIleIleAsnIleLysProProAlaIleThrGlnTyrGlnThrProLeuPheValTer;Phe148_Ala153delinsSerLeuHisLeuAlaGlyValSerSerIleLeuGlyAlaIleAsnPheIleThrThrIleIleAsnIleLysProProAlaIleThrGlnTyrGlnThrProLeuPheValTer;Val155_Ile165delinsSerSerIleLeuGlyAlaIleAsnPheIleThrThrIleIleAsnIleLysProProAlaIleThrGlnTyrGlnThrProLeuPheValTer;Thr167_Pro182delinsIleIleAsnIleLysProProAlaIleThrGlnTyrGlnThrProLeuPheValTer;Phe184_Leu230delinsValTer;Gln232_His233delinsHisLeuPheTer;Phe235_Ile245delinsTer;Ile247_Gly250delinsLeuProGlyPheGlyIleIleSerHisIleValThrTyrTyrSerGlyLysLysGluProPheGlyTyrIleGlyMetValTer;Ile254del;Met277_Val287delinsIleSerIleGlyPheLeuGlyPheIleValTer;Ala289_Phe293delinsHisHisIlePheThrValGlyIleAspValAspThrArgAlaTyrPheThrSerAlaThrIleIleIleAlaIleProThrGlyValLysValPheSerTer;Val295_Gly296delinsGlyIleAspValAspThrArgAlaTyrPheThrSerAlaThrIleIleIleAlaIleProThrGlyValLysValPheSerTer;Asp298_Thr309delinsProValAspThrArgAlaTyrPheThrSerAlaThrIleIleIleAlaIleProThrGlyValLysValPheSerTer;Ile312_Asn331delinsArgArgAlaIleProThrGlyValLysValPheSerTer;Lys333del;Ala336_Asn360delinsTrpAlaValLeuTer;Ser362_Leu367delinsProArgLeuAspIleValLeuHisAspThrTyrTyrValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Asp369_Leu381delinsThrTyrTyrValValAlaHisPheHisTyrValLeuSerIleGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Ile383_Phe400delinsGlyAlaValPheAlaIleIleGlyGlyPheIleHisTer;Gly402_Ala410delinsTyrThrLeuAspGlnThrTyrAlaLysIleHisPheThrIleIlePheIleGlyValAsnLeuThrPhePheProGlnHisPheLeuGlyLeuSerGlyMetProArgArgTyrSerAspTyrProAspAlaTyrThrThrTer;Ile412_Phe426delinsHisPheThrIleIlePheIleGlyValAsnLeuThrPhePheProGlnHisPheLeuGlyLeuSerGlyMetProArgArgTyrSerAspTyrProAspAlaTyrThrThrTer;Gln428_Met436delinsHisPheLeuGlyLeuSerGlyMetProArgArgTyrSerAspTyrProAspAlaTyrThrThrTer;Arg439delinsTyrSerAspTyrProAspAlaTyrThrThrTer;Ser441_Asp442delinsAspTyrProAspAlaTyrThrThrTer;Pro444_Ile452delinsAspAlaTyrThrThrTer;Ser455_Ser461delinsValGlySerPheIleSerLeuThrAlaValIleLeuIleIlePheMetIleTer;Thr463_Ile469delinsAlaValIleLeuIleIlePheMetIleTer;Met471_Glu474delinsGlyIleTer;Phe476_Arg514delinsAlaSerLysArgLysValLeuIleValGluGluProSerIleAsnLeuGluTer]