HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000498663.1:p.[Thr531_Ala547delinsAlaGlnHisValArgArgAlaAlaSerAspCysSerSerGluMetGly;Ala549_Gly552delinsGlyAsnThrArg;Arg554_Asn555delinsGlnGlu;His557_Asp560delinsThrProGly] |
CA2566058745
ENST00000652686.1:c.1590_1591del
|