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: GNE HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000439155.1:p.[Asp517_Ala522delinsMetAlaThrVal;Ala524_Glu525delinsProTrp;Phe528_Gly531delinsGlyAsnLeuAla;Gly533_Thr539delinsGluArgAspTrpLysThrLeu;Ile541_Ile546delinsHisLeuSerGlnAlaGlnGluSer]
CA2689945670
ENST00000539815.5:c.1549del