HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000348997.2:p.[Phe414_Gln418delinsGlyProThrAlaSerArg;Arg421_Gln425delinsProProLeuAlaAla;Leu427_Arg428delinsPro;Ser430_Pro431delinsThrThr;Gly433_Phe436delinsValLeuLeu;Trp439_Gly440delinsThr;Ala442_Gln447delinsLys;Asp449_Ala450delinsMetLeu] |
CA2573050850
ENST00000356589.6:c.1240_1261del
|