HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000445551.1:p.[Val488_Phe489del;Gly492_Tyr499delinsProTrpAlaCysGluGlyThrCys;Ser501_Gly506delinsThrProAlaThrCys;Leu508_Leu512delinsThrGlySerSerPro;Asn514_His517delinsSerCys] |
CA600240123
ENST00000542467.1:c.1463del
|