HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000461626.1:p.[Leu116Thr;Arg117_Leu118insAla;Arg119_Asp122delinsGluThrAlaProArg;Ser123_Lys124insLeu;Asn125_Phe126delinsSerValProArgGlyLeuHis;Ile128delinsGlySerGly;Val130delinsMetIle;Gln132_Tyr142delinsArgIleSerProSerLysCysGlyArgTrpArgIleThr;Met144delinsTrpThrSerThrThr] |
CA2638435215
ENST00000571680.1:c.289_344dup
|