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
ENSP00000404119.2:p.[Leu690_Gln691insGluGluHisLeu;Ser693_Ala697delinsProGlyGlyGly;Val700_Cys707delinsLeuLeuArgValProArgValGln;Val709_Asn711delinsAlaAlaPro;Leu713_Pro715delinsHis;Thr717_Tyr718delinsArg;Asp720Gln]
CA5293918
ENST00000423007.6:c.2071_2072del