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
ENSP00000458306.2:p.[Pro94_Ala105delinsArgGlnGlyHisHisProGlyThrValArgGlyPro;Gly107_Ile111delinsLeuLeuLeuHis;Ala113Cys;Gln115Ala;Leu117_Gln118delinsAlaAla;Ala120_Met122delinsSerProAsp;Gln124Ala]
CA16041881
ENST00000577106.6:c.281_282del