Canonical Allele Identifier: CA2740090760
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 2942854
ClinVar RCV Id: RCV003808020
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431182del , CM000663.2:g.68431182del GRCh38
NC_000001.10:g.68896865del , CM000663.1:g.68896865del GRCh37
NC_000001.9:g.68669453del NCBI36
NG_008472.1:g.23780del
NG_008472.2:g.23780del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1339-4del MANE Select ENSP00000262340.5:n.1339-4del
ENST00000262340.5:c.1339-4del ENSP00000262340.5:n.1339-4del
NM_000329.2:c.1339-4del NP_000320.1:n.1339-4del
XM_017002027.1:c.1063-4del XP_016857516.1:n.1063-4del
NM_000329.3:c.1339-4del MANE Select NP_000320.1:n.1339-4del
Search 100 bp 5'
Search 100 bp 3'