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: CFTR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000497673.2:p.[Asn48Tyr;Ser50_Leu53delinsLysAsnTrpLys;Arg55_Glu60delinsAsnGlyIleGluSerTrp;Ala62_Ser63delinsGlnArg;Lys65_Lys68delinsIleLeuAsnSer;Ile70_Cys76delinsMetProPheGlyAspVal;Phe78Ser]
CA2580076284
ENST00000647720.2:c.142_145del