HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000362125.4:p.[Ser487_Val488delinsArg;Tyr490_Pro494delinsProThrArg;Gln496_Val497delinsCysArg;Asp499_Phe503delinsArgCysGly;Tyr505_Val506delinsCysLeu;Ile508_Asn509delinsSer;Asn511Met;Gly513_Asp514delinsProSer;Tyr516delinsProThrGln;Ala517_Leu518insThrSerThr] |
CA2580100137
ENST00000373034.8:c.1461del
|