HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000499394.1:p.[Ile446_Ile454delinsHisProAlaProHisArgHisArg;Lys456_Ser458del;Val460_Asp464del;Phe466_Ala470delinsGlyCysGlyHisGln;Thr472_Gly476delinsProVal] |
CA2573158184
ENST00000664587.1:c.1336_1340del
|