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
ENSP00000384468.2:p.[Ile1668_Tyr1669delinsHisLeu;Ser1671_Asn1695delinsLeuGlnValAspCysProAlaProProHisGlnAlaAlaProProAlaAspLeuArgGlySerArgLeuLeuGln;Ser1697Gln]
CA2631118554
ENST00000401874.7:c.5001_5002insC
CA2731829118
ENST00000401874.7:c.5001delinsCC