Canonical Allele Identifier: CA226532
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444857_68444858insT , CM000663.2:g.68444857_68444858insT GRCh38
NC_000001.10:g.68910540_68910541insT , CM000663.1:g.68910540_68910541insT GRCh37
NC_000001.9:g.68683128_68683129insT NCBI36
NG_008472.1:g.10102_10103insA
NG_008472.2:g.10102_10103insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.271_272insA MANE Select ENSP00000262340.5:p.Arg91GlnfsTer5
ENST00000262340.5:c.271_272insA ENSP00000262340.5:p.Arg91GlnfsTer5
NM_000329.2:c.271_272insA NP_000320.1:p.Arg91GlnfsTer5
XM_017002027.1:c.-6_-5insA XP_016857516.1:n.-6_-5insA
NM_000329.3:c.271_272insA MANE Select NP_000320.1:p.Arg91GlnfsTer5