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: ATM HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011541145.1:p.[Leu2330Ser;Leu2332del;Thr2335_Cys2341delinsIleHisArgMetSerGlu;Asn2343Leu;Trp2344_Leu2345insGln;Ala2346_Cys2349delinsValSerArgAsnVal;Glu2351_Thr2359delinsArgLysSerCysGlyHisHisAlaAsp]
CA2695215480
XM_011542843.2:c.6987_6988insT