Canonical Allele Identifier: CA2573132571
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1452575
ClinVar RCV Id: RCV002037689 RCV004527440
dbSNP Id: rs2100807036
ERepo: CA2573132571/MONDO:0100368/120
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431158del , CM000663.2:g.68431158del GRCh38
NC_000001.10:g.68896841del , CM000663.1:g.68896841del GRCh37
NC_000001.9:g.68669429del NCBI36
NG_008472.1:g.23805del
NG_008472.2:g.23805del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1360del MANE Select ENSP00000262340.5:p.Thr454LeufsTer?
ENST00000262340.5:c.1360del ENSP00000262340.5:p.Thr454LeufsTer?
NM_000329.2:c.1360del NP_000320.1:p.Thr454LeufsTer?
XM_017002027.1:c.1084del XP_016857516.1:p.Thr362LeufsTer?
NM_000329.3:c.1360del MANE Select NP_000320.1:p.Thr454LeufsTer?
Search 100 bp 5'
Search 100 bp 3'