HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000429383.1:p.[Ser116_Asp119delinsLeuMetGlnThr;Gln121_Glu124del;Phe126_Phe129delinsIleMet;Gln131_Gln132delinsAsn;Lys134_Glu135delinsTyrSer;Lys137_Gln139delinsAsnAsnSer] |
CA4874373
ENST00000523741.5:c.346del
|