Canonical Allele Identifier: CA2519335685

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68439483_68439490del , CM000663.2:g.68439483_68439490del	GRCh38
NC_000001.10:g.68905166_68905173del , CM000663.1:g.68905166_68905173del	GRCh37
NC_000001.9:g.68677754_68677761del	NCBI36
NG_008472.1:g.15470_15477del
NG_008472.2:g.15470_15477del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262340.6:c.725+71_725+78del MANE Select	ENSP00000262340.5:n.725+71_725+78del
ENST00000262340.5:c.725+71_725+78del	ENSP00000262340.5:n.725+71_725+78del
NM_000329.2:c.725+71_725+78del	NP_000320.1:n.725+71_725+78del
XM_017002027.1:c.449+71_449+78del	XP_016857516.1:n.449+71_449+78del
NM_000329.3:c.725+71_725+78del MANE Select	NP_000320.1:n.725+71_725+78del