Canonical Allele Identifier: CA2646149727
Gene: RPE65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68430014_68430015insGAT , CM000663.2:g.68430014_68430015insGAT GRCh38
NC_000001.10:g.68895697_68895698insGAT , CM000663.1:g.68895697_68895698insGAT GRCh37
NC_000001.9:g.68668285_68668286insGAT NCBI36
NG_008472.1:g.24947_24948insCAT
NG_008472.2:g.24947_24948insCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-86_1451-85insCAT MANE Select ENSP00000262340.5:n.1451-86_1451-85insCAT
ENST00000262340.5:c.1451-86_1451-85insCAT ENSP00000262340.5:n.1451-86_1451-85insCAT
NM_000329.2:c.1451-86_1451-85insCAT NP_000320.1:n.1451-86_1451-85insCAT
XM_017002027.1:c.1175-86_1175-85insCAT XP_016857516.1:n.1175-86_1175-85insCAT
NM_000329.3:c.1451-86_1451-85insCAT MANE Select NP_000320.1:n.1451-86_1451-85insCAT