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: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011520940.1:p.[Ile1716_Tyr1717delinsHisLeu;Ser1719_Asn1743delinsLeuGlnValAspCysProAlaProProHisGlnAlaAlaProProAlaAspLeuArgGlySerArgLeuLeuGln;Ser1745Gln]
CA2631118554
XM_011522638.1:c.5145_5146insC
CA2731829118
XM_011522638.1:c.5145delinsCC