HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000337250.4:p.[Glu1230_Arg1235del;Leu1237_Ile1238del;Ala1240_His1247delinsArgPheAsnSerGlySerThrGlu;Val1249_Arg1250delinsAsp;Lys1252_Arg1255delinsSerCys;Ser1257_Pro1258del;Leu1260_Ser1263delinsArg] |
CA2581934947
ENST00000336112.8:c.3690_3700del
|