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
ENSP00000493846.1:p.[Ile1669_Tyr1670delinsHisLeu;Ser1672_Asn1696delinsLeuGlnValAspCysProAlaProProHisGlnAlaAlaProProAlaAspLeuArgGlySerArgLeuLeuGln;Ser1698Gln]
CA2631118554
ENST00000642797.1:c.5004_5005insC
CA2731829118
ENST00000642797.1:c.5004delinsCC