HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000340817.1:p.[Cys28del;Ala30del;Ala32Gly;Pro33_Pro34insArg;Ala35_Pro38delinsSerArgArgArg;Pro40Gly;Pro42_Glu43del;Pro45_Lys47delinsAla;Asn49_Pro56delinsValAlaAla] |
CA2586968931
ENST00000345662.5:c.80dup
CA2699033104
ENST00000345662.5:c.80_81insG
|