Canonical Allele Identifier: CA2542605472

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444763_68444764del , CM000663.2:g.68444763_68444764del	GRCh38
NC_000001.10:g.68910446_68910447del , CM000663.1:g.68910446_68910447del	GRCh37
NC_000001.9:g.68683034_68683035del	NCBI36
NG_008472.1:g.10196_10197del
NG_008472.2:g.10196_10197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.353+12_353+13del MANE Select	ENSP00000262340.5:n.353+12_353+13del
ENST00000262340.5:c.353+12_353+13del	ENSP00000262340.5:n.353+12_353+13del
NM_000329.2:c.353+12_353+13del	NP_000320.1:n.353+12_353+13del
XM_017002027.1:c.77+12_77+13del	XP_016857516.1:n.77+12_77+13del
NM_000329.3:c.353+12_353+13del MANE Select	NP_000320.1:n.353+12_353+13del