HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000462909.1:p.[Glu44_Ala50delinsArgAlaGlyGluThrArgArg;Arg52_Gln56delinsGluProSerSerSer;Tyr58_Ile65delinsThrArgAsnThrTrp;Gln67_Ala69delinsSerSerThr;Asn72Pro;Gly73_Tyr74insSerMetAla] |
CA773967149
ENST00000582761.1:c.130del
|