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
ENSP00000496262.1:p.[Ile1692_Tyr1693delinsHisLeu;Ser1695_Asn1719delinsLeuGlnValAspCysProAlaProProHisGlnAlaAlaProProAlaAspLeuArgGlySerArgLeuLeuGln;Ser1721Gln]
CA2631118554
ENST00000644043.1:c.5073_5074insC
CA2731829118
ENST00000644043.1:c.5073delinsCC