HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000503404.1:p.[Leu16_Leu19delinsAlaAlaAlaSer;Ser21_Ser24delinsLeuGlyValPro;Arg25dup;Glu27_Ala29delinsSerProArg;Asp31_Gln32delinsGlyArg;Glu34_Pro39delinsProAlaProProArgAla;Leu41Gln;Lys43_Pro45delinsAla] |
CA2653100669
ENST00000678939.1:c.45_46del
|