Canonical Allele Identifier: CA2646149673
Gene: RPE65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429755del , CM000663.2:g.68429755del GRCh38
NC_000001.10:g.68895438del , CM000663.1:g.68895438del GRCh37
NC_000001.9:g.68668026del NCBI36
NG_008472.1:g.25209del
NG_008472.2:g.25209del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.*25del MANE Select ENSP00000262340.5:n.*25del
ENST00000262340.5:c.*25del ENSP00000262340.5:n.*25del
NM_000329.2:c.*25del NP_000320.1:n.*25del
XM_017002027.1:c.*25del XP_016857516.1:n.*25del
NM_000329.3:c.*25del MANE Select NP_000320.1:n.*25del