Canonical Allele Identifier: CA226556

Gene: RPE65

Linked Data

• ClinVar Variation Id: 98872
• ClinVar RCV Id: RCV000085202 ; RCV001857420 ; RCV003460769
• dbSNP Id: rs281865288
• MyVariant Identifiers: chr1:g.68910213_68910214insC (hg19) ; chr1:g.68444530_68444531insC (hg38)
• ERepo: CA226556/MONDO:0100368/120

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444531dup , CM000663.2:g.68444531dup	GRCh38
NC_000001.10:g.68910214dup , CM000663.1:g.68910214dup	GRCh37
NC_000001.9:g.68682802dup	NCBI36
NG_008472.1:g.10430dup
NG_008472.2:g.10430dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.495+1dup
ENST00000262340.5:c.495+1dup
NM_000329.2:c.495+1dup
XM_017002027.1:c.219+1dup
NM_000329.3:c.495+1dup