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Canonical Allele Identifier: Get Identifier
Gene: MT-ATP6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000354632.2:p.[Pro28delinsLeuLeuIleProThrSerLysTyrLeuIleAsnAsnArgLeuIleThrThrGlnGlnTer;Lys51_Leu52delinsProLeuThrSerLysGlnMetIleThrIleHisAsnThrLysGlyArgThrTer;Gln56_Met57delinsTyrLeuMetIleThrIleHisAsnThrLysGlyArgThrTer;Thr59_His61delinsAsnIleHisAsnThrLysGlyArgThrTer;Thr63_Gly65delinsLysGlyArgThrTer;Thr67_Ser69delinsTer;Leu72_Ala80delinsValSerLeuIleIlePheIleAlaThrThrAsnLeuLeuGlyLeuLeuProHisSerPheThrProThrThrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Asn83_Thr96delinsGlnLeuLeuGlyLeuLeuProHisSerPheThrProThrThrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Leu98_Ser99delinsTerTyrSerIleAsnLeuAlaMetAlaIleProLeuTer;Leu102_Lys122delinsAlaMetAlaIleProLeuTer;Ala124_Val158delinsLeuAlaHisPheLeuProGlnGlyThrProThrProLeuIleProIleLeuValIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Thr161_Asn163delinsAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ala166_Ala177delinsGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Leu179_Ile209delinsGlnAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer;Ala211del]