Canonical Allele Identifier: CA226524
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98852
ClinVar RCV Id: RCV000085180
dbSNP Id: rs281865287
MyVariant Identifiers: chr1:g.68912429_68912430delinsCC (hg19) chr1:g.68446746_68446747delinsCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68446746_68446747delinsCC , CM000663.2:g.68446746_68446747delinsCC GRCh38
NC_000001.10:g.68912429_68912430delinsCC , CM000663.1:g.68912429_68912430delinsCC GRCh37
NC_000001.9:g.68685017_68685018delinsCC NCBI36
NG_008472.1:g.8213_8214delinsGG
NG_008472.2:g.8213_8214delinsGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.208_209delinsGG MANE Select ENSP00000262340.5:p.Phe70Gly
ENST00000262340.5:c.208_209delinsGG ENSP00000262340.5:p.Phe70Gly
NM_000329.2:c.208_209delinsGG NP_000320.1:p.Phe70Gly
XM_017002027.1:c.-31-1864_-31-1863delinsGG XP_016857516.1:n.-31-1864_-31-1863delinsGG
NM_000329.3:c.208_209delinsGG MANE Select NP_000320.1:p.Phe70Gly
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