HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000514614.1:p.[His498_Glu505delinsIleMetLysHisSerLysValLys;Glu507_Asp527delinsAsnArgIleThrGlySerLeuGlyGlnArgPheValLeuGluLysIleLysGlnProLysMet] |
CA916079939
ENST00000699811.1:c.1492del
|