Canonical Allele Identifier: CA2744009047
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68430007_68430008insA , CM000663.2:g.68430007_68430008insA GRCh38
NC_000001.10:g.68895690_68895691insA , CM000663.1:g.68895690_68895691insA GRCh37
NC_000001.9:g.68668278_68668279insA NCBI36
NG_008472.1:g.24952_24953insT
NG_008472.2:g.24952_24953insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-81_1451-80insT MANE Select ENSP00000262340.5:n.1451-81_1451-80insT
ENST00000262340.5:c.1451-81_1451-80insT ENSP00000262340.5:n.1451-81_1451-80insT
NM_000329.2:c.1451-81_1451-80insT NP_000320.1:n.1451-81_1451-80insT
XM_017002027.1:c.1175-81_1175-80insT XP_016857516.1:n.1175-81_1175-80insT
NM_000329.3:c.1451-81_1451-80insT MANE Select NP_000320.1:n.1451-81_1451-80insT