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: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011516444.1:p.[Trp383Leu;Tyr385_Val391delinsValSerAlaThrGlyAspArgArg;Lys394delinsAlaValProGly;Ser396Pro;Gly398_Tyr399delinsGlu;Ser402_Thr403del;Trp405_Tyr412delinsGluArgGlyGlyAlaProIle]
CA1139532749
XM_011518142.2:c.1147dup