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: COL4A5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000486.1:p.[Arg1262_Ile1280delinsAspGlnValTyrGlnValGlnLysValLeuGlnValSerLeuGluMetGluValLeu;Gly1282_Pro1290delinsGluArgArgGluIleGlnAlaAsnLeu]
CA2580100191
NM_000495.4:c.3784del