HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000500264.1:p.[Leu164_Trp167delinsPheSer;Lys169del;Phe171_Lys172delinsProArg;Gly175_Ala176delinsArgProGln;Glu177_Gly178insGlnLys;Asn179_Val182delinsThrMetSerTrp;Leu184_Arg192delinsPheCysGluThrLeuSerAsnGlyGlu] |
CA2580077187
ENST00000671824.1:c.490del
|