Canonical Allele Identifier: CA2566678862
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429995_68429996insAAGT , CM000663.2:g.68429995_68429996insAAGT GRCh38
NC_000001.10:g.68895678_68895679insAAGT , CM000663.1:g.68895678_68895679insAAGT GRCh37
NC_000001.9:g.68668266_68668267insAAGT NCBI36
NG_008472.1:g.24965_24966insCTTA
NG_008472.2:g.24965_24966insCTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-68_1451-67insCTTA MANE Select ENSP00000262340.5:n.1451-68_1451-67insCTTA
ENST00000262340.5:c.1451-68_1451-67insCTTA ENSP00000262340.5:n.1451-68_1451-67insCTTA
NM_000329.2:c.1451-68_1451-67insCTTA NP_000320.1:n.1451-68_1451-67insCTTA
XM_017002027.1:c.1175-68_1175-67insCTTA XP_016857516.1:n.1175-68_1175-67insCTTA
NM_000329.3:c.1451-68_1451-67insCTTA MANE Select NP_000320.1:n.1451-68_1451-67insCTTA