HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000366538.1:p.[Pro509_Gly513delinsSerAlaHisPhe;Val515_Ser520del;Lys522_Glu528del;Leu530_Ala532del;Lys534_Ser538del;Ile540_Leu542del;Leu544_Gln547del] |
CA2695214512
ENST00000377321.5:c.1524_1540del
|