Canonical Allele Identifier: CA2838572911
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429959dup , CM000663.2:g.68429959dup GRCh38
NC_000001.10:g.68895642dup , CM000663.1:g.68895642dup GRCh37
NC_000001.9:g.68668230dup NCBI36
NG_008472.1:g.25001dup
NG_008472.2:g.25001dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-32dup MANE Select ENSP00000262340.5:n.1451-32dup
ENST00000262340.5:c.1451-32dup ENSP00000262340.5:n.1451-32dup
NM_000329.2:c.1451-32dup NP_000320.1:n.1451-32dup
XM_017002027.1:c.1175-32dup XP_016857516.1:n.1175-32dup
NM_000329.3:c.1451-32dup MANE Select NP_000320.1:n.1451-32dup