Canonical Allele Identifier: CA2744009006
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429963_68429964insA , CM000663.2:g.68429963_68429964insA GRCh38
NC_000001.10:g.68895646_68895647insA , CM000663.1:g.68895646_68895647insA GRCh37
NC_000001.9:g.68668234_68668235insA NCBI36
NG_008472.1:g.24996_24997insT
NG_008472.2:g.24996_24997insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-37_1451-36insT MANE Select ENSP00000262340.5:n.1451-37_1451-36insT
ENST00000262340.5:c.1451-37_1451-36insT ENSP00000262340.5:n.1451-37_1451-36insT
NM_000329.2:c.1451-37_1451-36insT NP_000320.1:n.1451-37_1451-36insT
XM_017002027.1:c.1175-37_1175-36insT XP_016857516.1:n.1175-37_1175-36insT
NM_000329.3:c.1451-37_1451-36insT MANE Select NP_000320.1:n.1451-37_1451-36insT