Canonical Allele Identifier: CA2586966732

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68438314_68438315del , CM000663.2:g.68438314_68438315del	GRCh38
NC_000001.10:g.68903997_68903998del , CM000663.1:g.68903997_68903998del	GRCh37
NC_000001.9:g.68676585_68676586del	NCBI36
NG_008472.1:g.16646_16647del
NG_008472.2:g.16646_16647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1001_1002del MANE Select	ENSP00000262340.5:p.Phe334Ter
ENST00000262340.5:c.1001_1002del	ENSP00000262340.5:p.Phe334Ter
NM_000329.2:c.1001_1002del	NP_000320.1:p.Phe334Ter
XM_017002027.1:c.725_726del	XP_016857516.1:p.Phe242Ter
NM_000329.3:c.1001_1002del MANE Select	NP_000320.1:p.Phe334Ter