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
ENSP00000495099.1:p.[Ile1688_Tyr1689delinsHisLeu;Ser1691_Asn1715delinsLeuGlnValAspCysProAlaProProHisGlnAlaAlaProProAlaAspLeuArgGlySerArgLeuLeuGln;Ser1717Gln]
CA2631118554
ENST00000642561.1:c.5061_5062insC
CA2731829118
ENST00000642561.1:c.5061delinsCC