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: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000459972.2:p.[Phe487delinsCysLeu;Asp489_Asn492delinsArgLeuHisGln;Thr494_Met502delinsHisSerProGlyLeu;Ala504_Phe506delinsGlyGly;Asp508_Asp513delinsGly]
CA2640288297
ENST00000572080.2:c.1454_1455insGGCC