HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000466967.1:p.[Cys348_Val349delinsAlaAla;Cys351_Ala353delinsProSerThr;His355_Ala362delinsSerValSerAlaLysArgGlnGlu;Gly364_Ser367delinsProAlaAla;Arg369_Gly377delinsProSerSerLeuGlnProValVal;Pro379Leu] |
CA2582798722
ENST00000592062.5:c.1042_1048del
|