HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000498543.1:p.[Cys1239del;Asp1241_Trp1242delinsIleAla;Leu1244_Gly1245delinsArgThr;Gly1247_Cys1252delinsHisTrpAlaGlyAlaSer;Gly1255delinsAlaAla;Gly1257delinsGlnAla;Gly1258_Ala1259insGlu;Val1260_Gly1266delinsProSerValArgArgCysLeu;Pro1268dup] |
CA2642492243
ENST00000652369.1:c.3713_3714insTCAAATAG
|