This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PRPF8 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000515362.1:p.[Ala2178_Thr2182delinsGlyLeuGlnAlaAsp;Ser2184_Trp2188delinsGlnTrpLeuArgMet;Arg2190_Lys2195delinsProProGluHisArgGln;Asn2197_Asn2198delinsGlnGln;Lys2200Gln;Tyr2202del;Ser2205_His2206delinsAlaPheThrLeu]
CA2739290884
ENST00000703540.1:c.6530_6531insT