Canonical Allele Identifier: CA226586
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 372493
ClinVar RCV Id: RCV003766145
dbSNP Id: rs61752902
ExAC: 1:68904729 CT / C
gnomAD v2: 1-68904729-CT-C
gnomAD v3: 1-68439046-CT-C
gnomAD v4: 1-68439046-CT-C
MyVariant Identifiers: chr1:g.68904734del (hg19) chr1:g.68904730del (hg19) chr1:g.68439051del (hg38) chr1:g.68439048del (hg38) chr1:g.68439047del (hg38)
ERepo: CA226586/MONDO:0100368/120
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68439051del , CM000663.2:g.68439051del GRCh38
NC_000001.10:g.68904734del , CM000663.1:g.68904734del GRCh37
NC_000001.9:g.68677322del NCBI36
NG_008472.1:g.15913del
NG_008472.2:g.15913del

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.893del MANE Select ENSP00000262340.5:p.Lys298SerfsTer27
ENST00000262340.5:c.893del ENSP00000262340.5:p.Lys298SerfsTer27
NM_000329.2:c.893del NP_000320.1:p.Lys298SerfsTer27
XM_017002027.1:c.617del XP_016857516.1:p.Lys206SerfsTer27
NM_000329.3:c.893del MANE Select NP_000320.1:p.Lys298SerfsTer27
Search 100 bp 5'
Search 100 bp 3'