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: HEXA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000455114.1:p.[Val392_Gln401delinsAspSerAlaArgHisAsnHisThrGly;Trp403Ala;Glu405_Asn410delinsGlyTyrSerSerGluLeu;Met412_Lys413del;Leu415_Ala421delinsGlyAlaGlyThrGlyHisGln;Phe423delinsArgLeu]
CA915946067
ENST00000566304.5:c.1175_1179del