HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
XP_011517019.2:p.[Lys1940_Asp1944del;Lys1946_Ser1957del;Val1959_Leu1962del;Ser1964_His1966delinsPheHisCys;Tyr1968_Asp1971delinsArg;Ala1973_Pro1981delinsHisGln;Gln1983_Gln1984delinsGluTrp;Pro1986_Gly1995del;Pro1997_Asn2007delinsArg;Ala2010_Lys2011delinsVal;Glu2013_Met2014del;Leu2017_Phe2025del;Thr2027_Pro2030del;Leu2032_Ser2033del;Leu2035_Ser2039del;Thr2041_Gly2051del;Leu2053_Cys2067del;Trp2069_Val2078del;Asn2080del] |