Canonical Allele Identifier: CA2744009048
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68430009_68430010insC , CM000663.2:g.68430009_68430010insC GRCh38
NC_000001.10:g.68895692_68895693insC , CM000663.1:g.68895692_68895693insC GRCh37
NC_000001.9:g.68668280_68668281insC NCBI36
NG_008472.1:g.24950_24951insG
NG_008472.2:g.24950_24951insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-83_1451-82insG MANE Select ENSP00000262340.5:n.1451-83_1451-82insG
ENST00000262340.5:c.1451-83_1451-82insG ENSP00000262340.5:n.1451-83_1451-82insG
NM_000329.2:c.1451-83_1451-82insG NP_000320.1:n.1451-83_1451-82insG
XM_017002027.1:c.1175-83_1175-82insG XP_016857516.1:n.1175-83_1175-82insG
NM_000329.3:c.1451-83_1451-82insG MANE Select NP_000320.1:n.1451-83_1451-82insG