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_016879104.1:p.[Ile1734_Tyr1735delinsHisLeu;Ser1737_Asn1761delinsLeuGlnValAspCysProAlaProProHisGlnAlaAlaProProAlaAspLeuArgGlySerArgLeuLeuGln;Ser1763Gln]
CA2631118554
XM_017023615.1:c.5199_5200insC
CA2731829118
XM_017023615.1:c.5199delinsCC