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
ENSP00000344383.4:p.[Ile1712_Tyr1713delinsHisLeu;Ser1715_Asn1739delinsLeuGlnValAspCysProAlaProProHisGlnAlaAlaProProAlaAspLeuArgGlySerArgLeuLeuGln;Ser1741Gln]
CA2631118554
ENST00000350773.9:c.5133_5134insC
CA2731829118
ENST00000350773.9:c.5133delinsCC