Canonical Allele Identifier: CA2499214847
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1213914
ClinVar RCV Id: RCV001591856
dbSNP Id: rs2100805351
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429929del , CM000663.2:g.68429929del GRCh38
NC_000001.10:g.68895612del , CM000663.1:g.68895612del GRCh37
NC_000001.9:g.68668200del NCBI36
NG_008472.1:g.25031del
NG_008472.2:g.25031del

Transcript Alleles

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