HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000503404.1:p.[Leu17_Ser24delinsProSerValLeuGlyValProArg;Glu27_Ala29delinsSerProArg;Asp31_Gln32delinsGlyArg;Glu34_Pro39delinsProAlaProProArgAla;Leu41Gln;Lys43_Ser46delinsAlaVal;Arg48Pro] |
CA9882910
ENST00000678939.1:c.50_54del
|