Canonical Allele Identifier: CA1173563399
Gene: RPE65 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444580_68444582delinsGTC , CM000663.2:g.68444580_68444582delinsGTC GRCh38
NC_000001.10:g.68910263_68910265delinsGTC , CM000663.1:g.68910263_68910265delinsGTC GRCh37
NC_000001.9:g.68682851_68682853delinsGTC NCBI36
NG_008472.1:g.10378_10380delinsGAC
NG_008472.2:g.10378_10380delinsGAC

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.444_446delinsGAC MANE Select ENSP00000262340.5:p.Glu148=
ENST00000262340.5:c.444_446delinsGAC ENSP00000262340.5:p.Glu148=
NM_000329.2:c.444_446delinsGAC NP_000320.1:p.Glu148=
XM_017002027.1:c.168_170delinsGAC XP_016857516.1:p.Glu56=
NM_000329.3:c.444_446delinsGAC MANE Select NP_000320.1:p.Glu148=
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