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
ENSP00000374665.3:p.[Gln433_Val442delinsLeuLeuHisHisGlyArgProAlaLeuHis;Pro444_Ile446delinsAspArgGly;Ser448_Ala452delinsCysHisGlnGlnLeu;Ser454_Tyr455delinsProCys;Pro457_Leu462delinsGluLeuGlnAlaLeuArg;Arg463_Arg464insGlySerAlaGlu]
CA2573154961
ENST00000390015.7:c.1298_1301delinsTCCTGCACCATGGC