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.[Leu29delinsProProProLeuIleProThrSerLysTyrLeuIleAsnAsnArgLeuIleThrThrGlnGlnTer;Leu49_Thr53delinsProIleLysLeuThrSerLysGlnMetIleThrIleHisAsnThrLysGlyArgThrTer;Gln56_Met57delinsTyrLeuMetIleThrIleHisAsnThrLysGlyArgThrTer;Thr59_His61delinsAsnIleHisAsnThrLysGlyArgThrTer;Thr63_Gly65delinsLysGlyArgThrTer;Thr67_Ser69delinsTer;Leu72_Ala80delinsValSerLeuIleIlePheIleAlaThrThrAsnLeuLeuGlyLeuLeuProHisSerPheThrProThrThrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Asn83_Leu87delinsGlnGlnTerAsnArgLeuLeuGlyLeuLeuProHisSerPheThrProThrThrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Pro89_Phe92delinsIleHisSerPheThrProThrThrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Pro94delinsThrThrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Thr96delinsGlnGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Leu98_Leu108delinsSerIleAsnLeuAlaMetAlaIleProLeuTer;Ala110_Val113delinsGlyThrValIleIleGlyPheArgSerLysIleLysAsnAlaLeuAlaHisPheLeuProGlnGlyThrProThrProLeuIleProIleLeuValIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ile115_Arg118delinsSerGlyPheArgSerLysIleLysAsnAlaLeuAlaHisPheLeuProGlnGlyThrProThrProLeuIleProIleLeuValIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Lys120_Pro130delinsThrGlnIleLysAsnAlaLeuAlaHisPheLeuProGlnGlyThrProThrProLeuIleProIleLeuValIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Gly132delinsTerThrProThrProLeuIleProIleLeuValIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Pro134_Ile151delinsLysThrProLeuIleProIleLeuValIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Pro153delinsMetIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ala155_Leu160delinsLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ala162_Asn163delinsAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Thr165_Gly167delinsAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Leu170_Ile184delinsMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Leu186_Ser188delinsProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Leu190_Phe193delinsLysGlyArgIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ile195_Leu199delinsTerLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ile201_Phe214delinsAspHisAsnLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Leu216_Asn225delinsLysGlyArgLeuValSerLeuTyrLeuHisAspAsnThrTer;Ter227del]