HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000417578.3:p.[Val495Ala;Thr497_Ser498delinsValPro;Arg499_Gly500insPro;Gln501_Glu502delinsGlyThr;Gln504_Gly515delinsValSerGlyAlaValAlaAlaHisValTrpAlaLeuLeu;Cys517_Ser518delinsGlnArg;Asn520_Glu521del;Tyr523_His524delinsPro] |
CA2692518235
ENST00000486577.6:c.1482_1483del
|