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: CREBBP HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005255181.1:p.[Gln2318_Ser2323delinsSerArgSerProArgPro;Ser2325_Ala2332delinsValThrArgCysGlyLeuGln;Val2334_Gln2335delinsLeuSer;Pro2337_Gln2340delinsLeuHisGlyPro;Gln2342_Pro2344delinsProSerLeu;Ser2346_Ser2347delinsIleProAla]
CA2731849153
XM_005255124.4:c.6952del