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: KCNJ1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_722451.1:p.[Cys129_Val130insThrGluGlnCysAlaThrAlaIlePheLeuLeuIlePheGlnSerIleLeuGly;Val130_Thr131insIleIleAsnSerPheMetCysGlyAlaIleLeuAlaLysIleSerArgProLysLysArgAlaLys;Thr131_Glu132insIleThrPheSerLysAsnAlaValIleSerLysArgGlyGlyLysLeuCysLeuLeuIleArgValAlaAsnLeuArgLysSerLeuLeuIleGlySerHisIleTyrGlyLysLeuLeuLysThrThrValThrPro;Glu132_Gln133insGlyGluThrIleIleLeuAsp;Gln133_Cys134insIleAsnIleAsnPheValValAspAlaGlyAsnGluAsnLeuPhePheIleSerProLeuThrIleTyrHisValIleAspHisAsnSerProPhePheHisMetAlaAlaGluThrLeuLeuGlnGlnAspPheGluLeuValValPheLeuAspGlyThrValGluSerThrSerAlaThr;Cys134_Ala135insGlnValArgThrSerTyrValProGluGluValLeuTrpGlyTyrArgPhe;Ala135_Thr136insProIleValSerLys;Thr136_Ala137insLysGluGlyLysTyrArgValAspPheHisAsnPheSerLysThrValGluValGluThrProHisCysAlaMetCysLeuTyrAsnGluLysAspValArgAlaArgMetLysArgGlyTyrAspAsnProAsnPheIleLeuSerGluValAsnGluThrAspAspThrLysMetTerAla]