HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000323747.4:p.[Leu500_Lys502delinsThrGlyGln;Leu504Pro;Thr506_Gln508delinsHisArgPro;Ala510delinsCysSer;Ser512_Gly513delinsArgThr;Arg516_Ala526delinsGluAlaSerTrpAspCysArgTrpHisSerPro;Gly528del] |
CA2695214574
ENST00000315422.9:c.1497dup
|