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: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000372295.1:p.[Asn170_Ala171insGluArgLeu;Trp172_Asp179delinsLeuSerGlnHisCysGlyLeuLeu;Phe181del;Ser183_Thr186delinsProAlaHisGly;Lys188_Thr192delinsAspCysLeuHisSer;Phe194_Ala197delinsHisAspCysSer;Ser199_Gly200delinsTrp]
CA274346
ENST00000382844.2:c.508_511dup