HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000501943.1:p.[Thr41Glu;Ser44_Thr45delinsLeuHis;Leu47_Leu58delinsAlaPheHisArgAlaGluProArgGlnAspGluArg;Gly59_Ala60insVal;Pro61_Ala63delinsAlaGlyArgPro;Ala65_Ala68delinsArgArgArgCysPro;Lys70delinsArgGln] |
CA916079818
ENST00000675419.1:c.108_120dup
|