HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000502798.1:p.[Glu257del;Ter517_Leu518insAspAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluValGlySerCysSerGlySerLysGlyIleGlnLeuHisGlnGlyGluSerGlyLysThrGluGlyTrpHisValGluArgGlyThrSerLeuProSerGluGlyGlyProGlyThrSerProTrpAlaIleGlyArgSerSerAlaArgMetGluMetIleProCysTer] |