Canonical Allele Identifier: CA1173563400
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 973966
ClinVar RCV Id: RCV001250707
dbSNP Id: rs1645927790
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444584_68444585del , CM000663.2:g.68444584_68444585del GRCh38
NC_000001.10:g.68910267_68910268del , CM000663.1:g.68910267_68910268del GRCh37
NC_000001.9:g.68682855_68682856del NCBI36
NG_008472.1:g.10378_10379del
NG_008472.2:g.10378_10379del

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.444_445del MANE Select ENSP00000262340.5:p.Glu148AspfsTer8
ENST00000262340.5:c.444_445del ENSP00000262340.5:p.Glu148AspfsTer8
NM_000329.2:c.444_445del NP_000320.1:p.Glu148AspfsTer8
XM_017002027.1:c.168_169del XP_016857516.1:p.Glu56AspfsTer8
NM_000329.3:c.444_445del MANE Select NP_000320.1:p.Glu148AspfsTer8
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