This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: MT-ATP6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000354632.2:p.[Thr33delinsProProProHisSerLysTyrLeuIleAsnAsnArgLeuIleThrThrGlnGlnTer;Ile50_Thr53delinsGlnIleLysLeuThrSerLysGlnMetIleThrIleHisAsnThrLysGlyArgThrTer;Lys55delinsHisGlnMetIleThrIleHisAsnThrLysGlyArgThrTer;Met57_His61delinsGlnProIleThrIleHisAsnThrLysGlyArgThrTer;Thr63_Gly65delinsLysGlyArgThrTer;Thr67_Ser69delinsTer;Leu72_Ala80delinsValSerLeuIleIlePheIleAlaThrThrAsnLeuLeuGlyLeuLeuProHisSerPheThrProThrThrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Asn83_Thr96delinsGlnLeuLeuGlyLeuLeuProHisSerPheThrProThrThrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Leu98_Leu108delinsSerIleAsnLeuAlaMetAlaIleProLeuTer;Ala110_Gly111delinsGlyThrValIleIleGlyPheArgSerLysIleLysAsnAlaLeuAlaHisPheLeuProGlnGlyThrProThrProLeuIleProIleLeuValIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Val113_Lys122delinsIleIleGlyPheArgSerLysIleLysAsnAlaLeuAlaHisPheLeuProGlnGlyThrProThrProLeuIleProIleLeuValIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ala124_Ala126delinsHisLeuAlaHisPheLeuProGlnGlyThrProThrProLeuIleProIleLeuValIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Phe128_Leu129delinsLeuProGlnGlyThrProThrProLeuIleProIleLeuValIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Gln131_Gly132delinsGlyThrProThrProLeuIleProIleLeuValIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Pro134delinsMetThrProLeuIleProIleLeuValIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Pro136_Glu145delinsAsnGlnGlnGlnTerLeuIleProIleLeuValIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ile147_Ser148delinsAsnSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Leu150_Leu160delinsLysIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ala162delinsAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ile164_Leu170delinsAspAsnLysGlnThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;His172_Leu173delinsLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Gly175_Ala177delinsSerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Leu179_Ala180delinsAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ser182_Ile184delinsHisThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Leu186_Ser188delinsProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Leu190_Phe193delinsLysGlyArgIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ile195_Leu199delinsTerHisLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ile201_Ile209delinsLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ala211_Phe214delinsTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Leu216_Asn225delinsLysGlyArgLeuValSerLeuTyrLeuHisAspAsnThrTer;Ter227del]