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: APEX1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000451979.1:p.[Thr233_Gln238delinsLysSerAlaLysAlaSer;Phe240_Leu243delinsAsnTyrCysArg;Gln245_Leu249delinsCysHisTrpLeuThr;Asp251_Tyr257delinsLeuGlyThrSerThr;Asn259_Thr260delinsThrHis;Tyr262_Tyr264delinsMetProThr]
CA2122042044
ENST00000555414.5:c.698_704del