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: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502559.1:p.[Leu1893_Ser1895delinsPheLeuThr;Leu1897_Leu1900delinsGlyGlnThr;Lys1902_Val1903delinsGlu;Gln1905_Glu1908delinsIleThr;Gln1910_Arg1911delinsPheGly;Ile1913del;Glu1915_Leu1916del;Val1918_Glu1922delinsArgAsnHis]
CA2575242998
ENST00000675833.1:c.5677_5678del