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
ENSP00000503093.1:p.[Trp189Leu;Tyr191_Val197delinsValSerAlaThrGlyAspArgArg;Lys200delinsAlaValProGly;Ser202Pro;Gly204_Tyr205delinsGlu;Ser208_Thr209del;Trp211_Tyr218delinsGluArgGlyGlyAlaProIle]
CA1139532749
ENST00000676803.1:c.565dup