Canonical Allele Identifier: CA1173563424
Gene: RPE65 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444651_68444652delinsTC , CM000663.2:g.68444651_68444652delinsTC GRCh38
NC_000001.10:g.68910334_68910335delinsTC , CM000663.1:g.68910334_68910335delinsTC GRCh37
NC_000001.9:g.68682922_68682923delinsTC NCBI36
NG_008472.1:g.10308_10309delinsGA
NG_008472.2:g.10308_10309delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.374_375delinsGA MANE Select ENSP00000262340.5:p.Gly125=
ENST00000262340.5:c.374_375delinsGA ENSP00000262340.5:p.Gly125=
NM_000329.2:c.374_375delinsGA NP_000320.1:p.Gly125=
XM_017002027.1:c.98_99delinsGA XP_016857516.1:p.Gly33=
NM_000329.3:c.374_375delinsGA MANE Select NP_000320.1:p.Gly125=
Search 100 bp 5'
Search 100 bp 3'