HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000344152.5:p.[Phe289_Asp291delinsSerLeuMetGluTyr;Val293_Asn299delinsCysHisArgArgThrCysTrp;Val300_Leu301insArg;Glu303del;Gly305Ala;Gly307_Gly318delinsArgLeuProCysThrSerSerThrMetGlu] |
CA8337906
ENST00000350303.9:c.866del
|