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: SPTBN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_006718732.1:p.[Pro1516_Met1517del;Ser1519_Glu1522delinsHisGlyGlnLeu;Lys1525_Val1530delinsAlaTrpGlnGlyProAla;Leu1532_Lys1542delinsArgProAlaSerHisGluGluLysProAspProAla;Ile1544_Gln1545delinsArgAspSer]
CA1979773932
XM_006718669.3:c.4545dup