HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000472300.1:p.[Ala441_Val443delinsGlu;Cys445del;Cys447_Thr451delinsAlaSerProAlaAla;Thr453_Asn461delinsSerSerSerProProLeuTrpSerArg;Phe463_Ser470delinsAlaThrThrThrGlyPheGluArg] |
CA251238
ENST00000596014.5:c.1317_1321dup
|