HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000355292.5:p.[Glu257del;Ter488_Ter489insAspAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer] |