Canonical Allele Identifier: CA2586966984
Gene: RPE65 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431175_68431176dup , CM000663.2:g.68431175_68431176dup GRCh38
NC_000001.10:g.68896858_68896859dup , CM000663.1:g.68896858_68896859dup GRCh37
NC_000001.9:g.68669446_68669447dup NCBI36
NG_008472.1:g.23786_23787dup
NG_008472.2:g.23786_23787dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1341_1342dup MANE Select ENSP00000262340.5:p.Cys448SerfsTer4
ENST00000262340.5:c.1341_1342dup ENSP00000262340.5:p.Cys448SerfsTer4
NM_000329.2:c.1341_1342dup NP_000320.1:p.Cys448SerfsTer4
XM_017002027.1:c.1065_1066dup XP_016857516.1:p.Cys356SerfsTer4
NM_000329.3:c.1341_1342dup MANE Select NP_000320.1:p.Cys448SerfsTer4
Search 100 bp 5'
Search 100 bp 3'