HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000319814.4:p.[His503Gln;Ala505_Phe517delinsAsnCysProArgSerSerMetSerThrGlySerGlyArgThr;Asp520_Glu522delinsAlaAsnSerSer;Lys524_Phe525delinsGlnAla;Trp527_Gly531del;Asn533_Arg535delinsArgThrPro] |
CA2653461894
ENST00000319441.6:c.1509_1515del
|