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.[Glu1391Arg;Pro1393Ser;Pro1395_Ser1398delinsAlaPheGlnLeu;Arg1400_Arg1406delinsProLeuAlaGlnTrpProProAla;Gly1409_Ala1416delinsLeuHisHisLeuArgLeuGly;Ser1418_Arg1420delinsIleThrGln]
CA020272
ENST00000642206.2:c.4170dup