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
NP_001338765.1:p.[Tyr67del;Gln69_Lys70delinsTyrSer;Thr72_Ala84delinsArgAsnArgMetSerGluAsnSerLysThrLysCysIle;Thr86_Ala88delinsLeuAsnThr;Arg90Leu;Lys92delinsAlaGlu;Met94_Glu96delinsAspAlaGly]
CA2573146454
NM_001351836.2:c.198dup