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-ND5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000354813.2:p.[Phe54_Glu60delinsHisMetCysLeuAspGlnGluValIleIleSerAsnTer;Ile62_Ile90delinsProArgIleSerAsnTer;Val92_Trp98delinsArgAlaLeuPheValThrTrpSerIleIleGluPheSerLeuTer;Ile101del;Ile108_Lys119delinsAsnSerAspProAsnIleAsnGlnPhePheLysTyrLeuLeuIlePheLeuIleThrIleLeuIleLeuValThrAlaAsnAsnLeuPheGlnLeuPheIleGlyTer;Leu122_Phe124delinsGluIlePheLeuIleThrIleLeuIleLeuValThrAlaAsnAsnLeuPheGlnLeuPheIleGlyTer;Ile126delinsThrIleLeuIleLeuValThrAlaAsnAsnLeuPheGlnLeuPheIleGlyTer;Ile128delinsLeuIleLeuValThrAlaAsnAsnLeuPheGlnLeuPheIleGlyTer;Ile130_Ile150delinsLeuValThrAlaAsnAsnLeuPheGlnLeuPheIleGlyTer;Phe152_Leu191delinsLeuLeuIleSerTer;Ser193delinsAsnSerTer;Ser195_Asp197delinsTer;Gln200_Leu204delinsIleAlaLeuLeuAsnAlaAsnProSerLeuThrProLeuLeuGlyLeuLeuLeuAlaAlaAlaGlyLysSerAlaGlnLeuGlyLeuHisProTer;Ala206delinsAsnProSerLeuThrProLeuLeuGlyLeuLeuLeuAlaAlaAlaGlyLysSerAlaGlnLeuGlyLeuHisProTer;Ser209_Pro212delinsAlaMetCysLeuThrProLeuLeuGlyLeuLeuLeuAlaAlaAlaGlyLysSerAlaGlnLeuGlyLeuHisProTer;Leu214_Ala225delinsAspGlyLeuLeuLeuAlaAlaAlaGlyLysSerAlaGlnLeuGlyLeuHisProTer;Leu227_Ile237delinsGlyLeuHisProTer;Gly239_Pro242delinsProThrProValSerAlaLeuLeuHisSerSerThrIleValValAlaGlyIlePheLeuLeuIleArgPheHisProLeuAlaGluAsnSerProLeuIleGlnThrLeuThrLeuCysLeuGlyAlaIleThrThrLeuPheAlaAlaValCysAlaLeuThrGlnAsnAspIleLysLysIleValAlaPheSerThrSerSerGlnLeuGlyLeuIleIleValThrIleGlyIleAsnGlnProHisLeuAlaPheLeuHisIleCysThrHisAlaPhePheLysAlaIleLeuPheMetCysSerGlySerIleIleHisAsnLeuAsnAsnGluGlnAspIleArgLysIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Ser244_Thr251delinsAlaLeuLeuHisSerSerThrIleValValAlaGlyIlePheLeuLeuIleArgPheHisProLeuAlaGluAsnSerProLeuIleGlnThrLeuThrLeuCysLeuGlyAlaIleThrThrLeuPheAlaAlaValCysAlaLeuThrGlnAsnAspIleLysLysIleValAlaPheSerThrSerSerGlnLeuGlyLeuIleIleValThrIleGlyIleAsnGlnProHisLeuAlaPheLeuHisIleCysThrHisAlaPhePheLysAlaIleLeuPheMetCysSerGlySerIleIleHisAsnLeuAsnAsnGluGlnAspIleArgLysIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Val254_Gly256delinsAlaGlyIlePheLeuLeuIleArgPheHisProLeuAlaGluAsnSerProLeuIleGlnThrLeuThrLeuCysLeuGlyAlaIleThrThrLeuPheAlaAlaValCysAlaLeuThrGlnAsnAspIleLysLysIleValAlaPheSerThrSerSerGlnLeuGlyLeuIleIleValThrIleGlyIleAsnGlnProHisLeuAlaPheLeuHisIleCysThrHisAlaPhePheLysAlaIleLeuPheMetCysSerGlySerIleIleHisAsnLeuAsnAsnGluGlnAspIleArgLysIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Phe258_Asn269delinsLeuLeuIleArgPheHisProLeuAlaGluAsnSerProLeuIleGlnThrLeuThrLeuCysLeuGlyAlaIleThrThrLeuPheAlaAlaValCysAlaLeuThrGlnAsnAspIleLysLysIleValAlaPheSerThrSerSerGlnLeuGlyLeuIleIleValThrIleGlyIleAsnGlnProHisLeuAlaPheLeuHisIleCysThrHisAlaPhePheLysAlaIleLeuPheMetCysSerGlySerIleIleHisAsnLeuAsnAsnGluGlnAspIleArgLysIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Pro271_Gln295delinsLeuIleGlnThrLeuThrLeuCysLeuGlyAlaIleThrThrLeuPheAlaAlaValCysAlaLeuThrGlnAsnAspIleLysLysIleValAlaPheSerThrSerSerGlnLeuGlyLeuIleIleValThrIleGlyIleAsnGlnProHisLeuAlaPheLeuHisIleCysThrHisAlaPhePheLysAlaIleLeuPheMetCysSerGlySerIleIleHisAsnLeuAsnAsnGluGlnAspIleArgLysIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Asp297_Gln309delinsTerIleLysLysIleValAlaPheSerThrSerSerGlnLeuGlyLeuIleIleValThrIleGlyIleAsnGlnProHisLeuAlaPheLeuHisIleCysThrHisAlaPhePheLysAlaIleLeuPheMetCysSerGlySerIleIleHisAsnLeuAsnAsnGluGlnAspIleArgLysIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Gly311_Gln321delinsLeuIleIleValThrIleGlyIleAsnGlnProHisLeuAlaPheLeuHisIleCysThrHisAlaPhePheLysAlaIleLeuPheMetCysSerGlySerIleIleHisAsnLeuAsnAsnGluGlnAspIleArgLysIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;His323_Phe335delinsLeuAlaPheLeuHisIleCysThrHisAlaPhePheLysAlaIleLeuPheMetCysSerGlySerIleIleHisAsnLeuAsnAsnGluGlnAspIleArgLysIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Ala337_Ile338delinsIleLeuPheMetCysSerGlySerIleIleHisAsnLeuAsnAsnGluGlnAspIleArgLysIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Phe340_Glu353delinsMetCysSerGlySerIleIleHisAsnLeuAsnAsnGluGlnAspIleArgLysIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Asp355_Ile356delinsThrIleArgLysIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Lys358_Gly361delinsIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Leu363_Thr369delinsLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Thr371_Pro384delinsSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Leu386_Ser391delinsThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Asp393_Ala408delinsHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Ser410_Ala421delinsAspIleThrLeuIleAlaThrSerLeuThrSerAlaTyrSerThrArgIleIleLeuLeuThrLeuThrGlyGlnProArgPheProThrLeuThrAsnIleAsnGluAsnAsnProThrLeuLeuAsnProIleLysArgLeuAlaAlaGlySerLeuPheAlaGlyPheLeuIleThrAsnAsnIleSerProAlaSerProPheGlnThrThrIleProLeuTyrLeuLysLeuThrAlaLeuAlaValThrPheLeuGlyLeuLeuThrAlaLeuAspLeuAsnTyrLeuThrAsnLysLeuLysIleLysSerProLeuCysThrPheTyrPheSerAsnIleLeuGlyPheTyrProSerIleThrHisArgThrIleProTyrLeuGlyLeuLeuThrSerGlnAsnLeuProLeuLeuLeuLeuAspLeuThrTer;Ser423_Arg436delinsThrArgIleIleLeuLeuThrLeuThrGlyGlnProArgPheProThrLeuThrAsnIleAsnGluAsnAsnProThrLeuLeuAsnProIleLysArgLeuAlaAlaGlySerLeuPheAlaGlyPheLeuIleThrAsnAsnIleSerProAlaSerProPheGlnThrThrIleProLeuTyrLeuLysLeuThrAlaLeuAlaValThrPheLeuGlyLeuLeuThrAlaLeuAspLeuAsnTyrLeuThrAsnLysLeuLysIleLysSerProLeuCysThrPheTyrPheSerAsnIleLeuGlyPheTyrProSerIleThrHisArgThrIleProTyrLeuGlyLeuLeuThrSerGlnAsnLeuProLeuLeuLeuLeuAspLeuThrTer;Pro438_Gly460delinsThrLeuThrAsnIleAsnGluAsnAsnProThrLeuLeuAsnProIleLysArgLeuAlaAlaGlySerLeuPheAlaGlyPheLeuIleThrAsnAsnIleSerProAlaSerProPheGlnThrThrIleProLeuTyrLeuLysLeuThrAlaLeuAlaValThrPheLeuGlyLeuLeuThrAlaLeuAspLeuAsnTyrLeuThrAsnLysLeuLysIleLysSerProLeuCysThrPheTyrPheSerAsnIleLeuGlyPheTyrProSerIleThrHisArgThrIleProTyrLeuGlyLeuLeuThrSerGlnAsnLeuProLeuLeuLeuLeuAspLeuThrTer;Leu462_Leu467delinsPheAlaGlyPheLeuIleThrAsnAsnIleSerProAlaSerProPheGlnThrThrIleProLeuTyrLeuLysLeuThrAlaLeuAlaValThrPheLeuGlyLeuLeuThrAlaLeuAspLeuAsnTyrLeuThrAsnLysLeuLysIleLysSerProLeuCysThrPheTyrPheSerAsnIleLeuGlyPheTyrProSerIleThrHisArgThrIleProTyrLeuGlyLeuLeuThrSerGlnAsnLeuProLeuLeuLeuLeuAspLeuThrTer;Thr469_Asn471delinsAsnAsnIleSerProAlaSerProPheGlnThrThrIleProLeuTyrLeuLysLeuThrAlaLeuAlaValThrPheLeuGlyLeuLeuThrAlaLeuAspLeuAsnTyrLeuThrAsnLysLeuLysIleLysSerProLeuCysThrPheTyrPheSerAsnIleLeuGlyPheTyrProSerIleThrHisArgThrIleProTyrLeuGlyLeuLeuThrSerGlnAsnLeuProLeuLeuLeuLeuAspLeuThrTer;Ser473_Pro477delinsProAlaSerProPheGlnThrThrIleProLeuTyrLeuLysLeuThrAlaLeuAlaValThrPheLeuGlyLeuLeuThrAlaLeuAspLeuAsnTyrLeuThrAsnLysLeuLysIleLysSerProLeuCysThrPheTyrPheSerAsnIleLeuGlyPheTyrProSerIleThrHisArgThrIleProTyrLeuGlyLeuLeuThrSerGlnAsnLeuProLeuLeuLeuLeuAspLeuThrTer;Gln479_Thr481delinsThrThrIleProLeuTyrLeuLysLeuThrAlaLeuAlaValThrPheLeuGlyLeuLeuThrAlaLeuAspLeuAsnTyrLeuThrAsnLysLeuLysIleLysSerProLeuCysThrPheTyrPheSerAsnIleLeuGlyPheTyrProSerIleThrHisArgThrIleProTyrLeuGlyLeuLeuThrSerGlnAsnLeuProLeuLeuLeuLeuAspLeuThrTer;Leu484_Thr489delinsValTyrLeuLysLeuThrAlaLeuAlaValThrPheLeuGlyLeuLeuThrAlaLeuAspLeuAsnTyrLeuThrAsnLysLeuLysIleLysSerProLeuCysThrPheTyrPheSerAsnIleLeuGlyPheTyrProSerIleThrHisArgThrIleProTyrLeuGlyLeuLeuThrSerGlnAsnLeuProLeuLeuLeuLeuAspLeuThrTer;Ala492delinsPheValThrPheLeuGlyLeuLeuThrAlaLeuAspLeuAsnTyrLeuThrAsnLysLeuLysIleLysSerProLeuCysThrPheTyrPheSerAsnIleLeuGlyPheTyrProSerIleThrHisArgThrIleProTyrLeuGlyLeuLeuThrSerGlnAsnLeuProLeuLeuLeuLeuAspLeuThrTer;Phe495_Lys514delinsTrpLeuGlyLeuLeuThrAlaLeuAspLeuAsnTyrLeuThrAsnLysLeuLysIleLysSerProLeuCysThrPheTyrPheSerAsnIleLeuGlyPheTyrProSerIleThrHisArgThrIleProTyrLeuGlyLeuLeuThrSerGlnAsnLeuProLeuLeuLeuLeuAspLeuThrTer;Pro516_Asn524delinsLeuCysThrPheTyrPheSerAsnIleLeuGlyPheTyrProSerIleThrHisArgThrIleProTyrLeuGlyLeuLeuThrSerGlnAsnLeuProLeuLeuLeuLeuAspLeuThrTer;Leu526_Ser531delinsGlyPheTyrProSerIleThrHisArgThrIleProTyrLeuGlyLeuLeuThrSerGlnAsnLeuProLeuLeuLeuLeuAspLeuThrTer;Thr533_Leu558delinsHisArgThrIleProTyrLeuGlyLeuLeuThrSerGlnAsnLeuProLeuLeuLeuLeuAspLeuThrTer;Lys560_Tyr587delinsLeuLeuProLysThrIleSerGlnHisGlnIleSerThrSerIleIleThrSerThrGlnLysGlyIleIleLysLeuTyrPheLeuSerPhePhePheProLeuIleLeuThrLeuLeuLeuIleThrTer;Leu589delinsSerPhePhePheProLeuIleLeuThrLeuLeuLeuIleThrTer;Phe593_Pro594delinsProLeuIleLeuThrLeuLeuLeuIleThrTer;Ile596del]