Canonical Allele Identifier: CA226572
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98885
ClinVar RCV Id: RCV000085215 RCV000670924 RCV004527318
dbSNP Id: rs61752893
ExAC: 1:68905366 TA / T
gnomAD v2: 1-68905366-TA-T
gnomAD v3: 1-68439683-TA-T
gnomAD v4: 1-68439683-TA-T
MyVariant Identifiers: chr1:g.68905367del (hg19) chr1:g.68439684del (hg38)
ERepo: CA226572/MONDO:0100368/120
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68439684del , CM000663.2:g.68439684del GRCh38
NC_000001.10:g.68905367del , CM000663.1:g.68905367del GRCh37
NC_000001.9:g.68677955del NCBI36
NG_008472.1:g.15276del
NG_008472.2:g.15276del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.644-42del MANE Select ENSP00000262340.5:n.644-42del
ENST00000262340.5:c.644-42del ENSP00000262340.5:n.644-42del
NM_000329.2:c.644-42del NP_000320.1:n.644-42del
XM_017002027.1:c.368-42del XP_016857516.1:n.368-42del
NM_000329.3:c.644-42del MANE Select NP_000320.1:n.644-42del
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