HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_060087.3:p.[Lys2181_Asp2185del;Lys2187_Ser2198del;Val2200_Leu2203del;Ser2205_His2207delinsPheHisCys;Tyr2209_Asp2212delinsArg;Ala2214_Pro2222delinsHisGln;Gln2224_Gln2225delinsGluTrp;Pro2227_Gly2236del;Pro2238_Asn2248delinsArg;Ala2251_Lys2252delinsVal;Glu2254_Met2255del;Leu2258_Phe2266del;Thr2268_Pro2271del;Leu2273_Ser2274del;Leu2276_Ser2280del;Thr2282_Gly2292del;Leu2294_Cys2308del;Trp2310_Val2319del;Asn2321del] |