Canonical Allele Identifier: CA2646150105
Gene: RPE65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431205dup , CM000663.2:g.68431205dup GRCh38
NC_000001.10:g.68896888dup , CM000663.1:g.68896888dup GRCh37
NC_000001.9:g.68669476dup NCBI36
NG_008472.1:g.23755dup
NG_008472.2:g.23755dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1339-29dup MANE Select ENSP00000262340.5:n.1339-29dup
ENST00000262340.5:c.1339-29dup ENSP00000262340.5:n.1339-29dup
NM_000329.2:c.1339-29dup NP_000320.1:n.1339-29dup
XM_017002027.1:c.1063-29dup XP_016857516.1:n.1063-29dup
NM_000329.3:c.1339-29dup MANE Select NP_000320.1:n.1339-29dup