Canonical Allele Identifier: CA2646149668
Gene: RPE65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429730_68429731insT , CM000663.2:g.68429730_68429731insT GRCh38
NC_000001.10:g.68895413_68895414insT , CM000663.1:g.68895413_68895414insT GRCh37
NC_000001.9:g.68668001_68668002insT NCBI36
NG_008472.1:g.25229_25230insA
NG_008472.2:g.25229_25230insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.*45_*46insA MANE Select ENSP00000262340.5:n.*45_*46insA
ENST00000262340.5:c.*45_*46insA ENSP00000262340.5:n.*45_*46insA
NM_000329.2:c.*45_*46insA NP_000320.1:n.*45_*46insA
XM_017002027.1:c.*45_*46insA XP_016857516.1:n.*45_*46insA
NM_000329.3:c.*45_*46insA MANE Select NP_000320.1:n.*45_*46insA