HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000516672.1:p.[Pro1242_Ser1247delinsAlaAlaArgGlyVal;Arg1249Glu;Val1251_Phe1257delinsGluAlaArgLeuGlnLeuLeuIle;Gly1259_Ser1260delinsProGly;Phe1262_Ser1264delinsProIleTrp;Arg1266delinsGlnAla;Lys1268Gln;Gly1269_Pro1270insAla] |
CA2693794532
ENST00000706952.1:c.3716_3719dup
|