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.[Leu29delinsSerIleAspLeuIleProThrSerLysTyrLeuIleAsnAsnArgLeuIleThrThrGlnGlnTer;Leu49_Lys51delinsProHisIleLysLeuThrSerLysGlnMetIleThrIleHisAsnThrLysGlyArgThrTer;Thr53_Lys55delinsSerLysGlnMetIleThrIleHisAsnThrLysGlyArgThrTer;Met57delinsIleThrIleHisAsnThrLysGlyArgThrTer;Thr59_Thr63delinsSerIleHisAsnThrLysGlyArgThrTer;Gly65_Ser69delinsTyrArgThrTer;Leu72_Ser74delinsAsnAsnArgValSerLeuIleIlePheIleAlaThrThrAsnLeuLeuGlyLeuLeuProHisSerPheThrProThrThrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Ile77_Ala80delinsPheIleAlaThrThrAsnLeuLeuGlyLeuLeuProHisSerPheThrProThrThrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Asn83_Pro89delinsGlnGlnTerSerLeuLeuGlyLeuLeuProHisSerPheThrProThrThrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Ser91_Thr93delinsGlnGlnPheThrProThrThrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Thr96_Gln97delinsTyrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Ser99delinsIleAsnLeuAlaMetAlaIleProLeuTer;Leu102_Ala105delinsAsnArgLeuAlaMetAlaIleProLeuTer;Pro107_Gly111delinsThrLeuTer;Val113_Lys120delinsGlnGlnTerAsnHisHisProLeuIleIleGlyPheArgSerLysIleLysAsnAlaLeuAlaHisPheLeuProGlnGlyThrProThrProLeuIleProIleLeuValIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Lys122_Pro130delinsThrThrGlnGlnTerThrMetThrAsnAsnAlaLeuAlaHisPheLeuProGlnGlyThrProThrProLeuIleProIleLeuValIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Gly132_Pro134delinsTerGlnThrProThrProLeuIleProIleLeuValIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Pro136delinsAsnLeuIleProIleLeuValIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ile138_Ile140delinsProIleLeuValIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Val142delinsIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ile144_Glu145delinsLysLeuGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ile147delinsSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Leu149_Ile151delinsLysLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Pro153delinsMetIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ala155_Leu160delinsLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ala162_Asn163delinsAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Thr165_Gly167delinsAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Leu169_Ile174delinsAsnThrLysLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ser176_Ala177delinsArgAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Leu179_Ser182delinsTerLysAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ile184_Pro187delinsAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Thr189_Ile191delinsLysGlnMetLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Phe193delinsThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Leu196_Leu199delinsHisAsnIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ile201_Ile209delinsLysGlyArgThrTerThrAsnAspLysLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ala211_Phe214delinsMetIleTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Leu216_Asn225delinsIleHisAsnThrLysGlyArgLeuValSerLeuTyrLeuHisAspAsnThrTer;Ter227del]