HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000394413.1:p.[Asn514_Ile515delinsLysTyr;Leu517_Leu518del;Pro520_Leu523delinsValGluSer;Lys525_Asp533delinsPheAlaAlaGluAspTyrAsnThrSer;Met535_Glu543delinsSerArgSerTyrGlyLysArgArgLysGln] |
CA2776947274
ENST00000428214.5:c.1541dup
|