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
ENSP00000460543.2:p.[Trp859_Arg870delinsGlyThrMetGluArgAlaTrpLysCysTrpSerGlu;Ala872_Tyr873delinsPro;Gln875_Asn883delinsHisArgSerSerSerTrpProGlyIle;Ile885_Glu888delinsArgSer]
CA502167491
ENST00000570803.6:c.2574del