Canonical Allele Identifier: CA2744009101
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431417_68431418insAG , CM000663.2:g.68431417_68431418insAG GRCh38
NC_000001.10:g.68897100_68897101insAG , CM000663.1:g.68897100_68897101insAG GRCh37
NC_000001.9:g.68669688_68669689insAG NCBI36
NG_008472.1:g.23542_23543insCT
NG_008472.2:g.23542_23543insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1244-42_1244-41insCT MANE Select ENSP00000262340.5:n.1244-42_1244-41insCT
ENST00000262340.5:c.1244-42_1244-41insCT ENSP00000262340.5:n.1244-42_1244-41insCT
NM_000329.2:c.1244-42_1244-41insCT NP_000320.1:n.1244-42_1244-41insCT
XM_017002027.1:c.968-42_968-41insCT XP_016857516.1:n.968-42_968-41insCT
NM_000329.3:c.1244-42_1244-41insCT MANE Select NP_000320.1:n.1244-42_1244-41insCT