Canonical Allele Identifier: CA1173557982
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431270_68431271delinsAG , CM000663.2:g.68431270_68431271delinsAG GRCh38
NC_000001.10:g.68896953_68896954delinsAG , CM000663.1:g.68896953_68896954delinsAG GRCh37
NC_000001.9:g.68669541_68669542delinsAG NCBI36
NG_008472.1:g.23689_23690delinsCT
NG_008472.2:g.23689_23690delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1338+11_1338+12delinsCT MANE Select ENSP00000262340.5:n.1338+11_1338+12delinsCT
ENST00000262340.5:c.1338+11_1338+12delinsCT ENSP00000262340.5:n.1338+11_1338+12delinsCT
NM_000329.2:c.1338+11_1338+12delinsCT NP_000320.1:n.1338+11_1338+12delinsCT
XM_017002027.1:c.1062+11_1062+12delinsCT XP_016857516.1:n.1062+11_1062+12delinsCT
NM_000329.3:c.1338+11_1338+12delinsCT MANE Select NP_000320.1:n.1338+11_1338+12delinsCT