HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000496001.1:p.[Asn105_Lys112delinsGlnArgThrValArgGluProGlnSer;Thr115_Ile121delinsGlnAlaTyrAspMetAspPro;Leu123del;Asn125_Phe130delinsGlu;Glu132del;Thr134del] |
CA2678869429
ENST00000646188.1:c.312dup
|