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
ENSP00000495146.2:p.[Ile1684_Tyr1685delinsHisLeu;Ser1687_Asn1711delinsLeuGlnValAspCysProAlaProProHisGlnAlaAlaProProAlaAspLeuArgGlySerArgLeuLeuGln;Ser1713Gln]
CA2631118554
ENST00000642206.2:c.5049_5050insC
CA2731829118
ENST00000642206.2:c.5049delinsCC