Canonical Allele Identifier: CA2744009029
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429988_68429989insGT , CM000663.2:g.68429988_68429989insGT GRCh38
NC_000001.10:g.68895671_68895672insGT , CM000663.1:g.68895671_68895672insGT GRCh37
NC_000001.9:g.68668259_68668260insGT NCBI36
NG_008472.1:g.24971_24972insAC
NG_008472.2:g.24971_24972insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-62_1451-61insAC MANE Select ENSP00000262340.5:n.1451-62_1451-61insAC
ENST00000262340.5:c.1451-62_1451-61insAC ENSP00000262340.5:n.1451-62_1451-61insAC
NM_000329.2:c.1451-62_1451-61insAC NP_000320.1:n.1451-62_1451-61insAC
XM_017002027.1:c.1175-62_1175-61insAC XP_016857516.1:n.1175-62_1175-61insAC
NM_000329.3:c.1451-62_1451-61insAC MANE Select NP_000320.1:n.1451-62_1451-61insAC