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.[Thr51delinsHisAsnAsnThrIlePheMetCysLeuAspGlnGluValIleIleSerAsnTer;His67_Ser86delinsTer;Ile88_Ile90delinsHisValPheIleProValAlaLeuPheValThrTrpSerIleIleGluPheSerLeuTer;Val92_Trp98delinsArgProArgAlaLeuPheValThrTrpSerIleIleGluPheSerLeuTer;Ile101del;Ile108_Lys119delinsAsnSerAspProAsnIleAsnGlnPhePheLysTyrLeuLeuIlePheLeuIleThrIleLeuIleLeuValThrAlaAsnAsnLeuPheGlnLeuPheIleGlyTer;Leu122_Phe124delinsGluIlePheLeuIleThrIleLeuIleLeuValThrAlaAsnAsnLeuPheGlnLeuPheIleGlyTer;Ile126delinsThrIleLeuIleLeuValThrAlaAsnAsnLeuPheGlnLeuPheIleGlyTer;Ile128delinsLeuIleLeuValThrAlaAsnAsnLeuPheGlnLeuPheIleGlyTer;Ile130_Ile150delinsLeuValThrAlaAsnAsnLeuPheGlnLeuPheIleGlyTer;Phe152_Leu191delinsLeuLeuIleSerTer;Ser193delinsAsnSerTer;Ser195_Asp197delinsTer;Gln200_Leu204delinsIleAlaLeuLeuAsnAlaAsnProSerLeuThrProLeuLeuGlyLeuLeuLeuAlaAlaAlaGlyLysSerAlaGlnLeuGlyLeuHisProTer;Ala206delinsAsnProSerLeuThrProLeuLeuGlyLeuLeuLeuAlaAlaAlaGlyLysSerAlaGlnLeuGlyLeuHisProTer;Ser209_Leu218delinsLeuThrProLeuLeuGlyLeuLeuLeuAlaAlaAlaGlyLysSerAlaGlnLeuGlyLeuHisProTer;Ala220_Leu278delinsMetAlaGlyLysSerAlaGlnLeuGlyLeuHisProTer;Gly281_Asn296delinsAlaIleThrThrLeuPheAlaAlaValCysAlaLeuThrGlnAsnAspIleLysLysIleValAlaPheSerThrSerSerGlnLeuGlyLeuIleIleValThrIleGlyIleAsnGlnProHisLeuAlaPheLeuHisIleCysThrHisAlaPhePheLysAlaIleLeuPheMetCysSerGlySerIleIleHisAsnLeuAsnAsnGluGlnAspIleArgLysIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Ile298_Ser308delinsLysLysIleValAlaPheSerThrSerSerGlnLeuGlyLeuIleIleValThrIleGlyIleAsnGlnProHisLeuAlaPheLeuHisIleCysThrHisAlaPhePheLysAlaIleLeuPheMetCysSerGlySerIleIleHisAsnLeuAsnAsnGluGlnAspIleArgLysIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Leu310_Ile314delinsGluGlyLeuIleIleValThrIleGlyIleAsnGlnProHisLeuAlaPheLeuHisIleCysThrHisAlaPhePheLysAlaIleLeuPheMetCysSerGlySerIleIleHisAsnLeuAsnAsnGluGlnAspIleArgLysIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Thr316delinsIleGlyIleAsnGlnProHisLeuAlaPheLeuHisIleCysThrHisAlaPhePheLysAlaIleLeuPheMetCysSerGlySerIleIleHisAsnLeuAsnAsnGluGlnAspIleArgLysIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Gly318delinsIleAsnGlnProHisLeuAlaPheLeuHisIleCysThrHisAlaPhePheLysAlaIleLeuPheMetCysSerGlySerIleIleHisAsnLeuAsnAsnGluGlnAspIleArgLysIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Asn320_Cys342delinsGlnProHisLeuAlaPheLeuHisIleCysThrHisAlaPhePheLysAlaIleLeuPheMetCysSerGlySerIleIleHisAsnLeuAsnAsnGluGlnAspIleArgLysIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Gly344_His348delinsSerIleIleHisAsnLeuAsnAsnGluGlnAspIleArgLysIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Leu350_Gly361delinsTerAsnAsnGluGlnAspIleArgLysIleGlyGlyLeuLeuLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Leu363delinsProLysThrIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Thr365_Pro367delinsIleProLeuThrSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Thr369_Ser372delinsSerThrSerLeuThrIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Thr374_Gly376delinsIleGlySerLeuAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;Leu378_Pro384delinsAlaLeuAlaGlyIleProPheLeuThrGlyPheTyrSerLysAspHisIleIleGluThrAlaAsnIleSerTyrThrAsnAlaTer;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]