HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000412835.3:p.[Ser1683_Pro1689delinsProGlyHisArgAlaThrThr;Gln1691_Pro1692delinsThrThr;Pro1694_Gly1704delinsAsnGlnLysGlyAspHisLeuSerSerTrpLeu;Val1706_Val1712delinsArgSerIleThrThrSer] |
CA2713416346
ENST00000414678.8:c.5046_5047del
|