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.[Ile706delinsAsnGlnAlaCysGln;Gly707_Leu708insTyr;Pro709_Pro712delinsValAlaLysGluAsnGlnValSerLeuGluLeu;Gly713_Pro714insPheLeuAspHisLeuVal;Gly716Ala;Pro718_Pro727delinsLeuGluPheGlnAspLeuGlnGluHisLeu;Thr729_Gly734delinsHisLeuGluGluLeuVal]
CA258613
NM_000495.4:c.2062_2114dup