Canonical Allele Identifier: CA2744008994

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68429946_68429947insACA , CM000663.2:g.68429946_68429947insACA	GRCh38
NC_000001.10:g.68895629_68895630insACA , CM000663.1:g.68895629_68895630insACA	GRCh37
NC_000001.9:g.68668217_68668218insACA	NCBI36
NG_008472.1:g.25013_25014insTGT
NG_008472.2:g.25013_25014insTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000262340.6:c.1451-20_1451-19insTGT MANE Select	ENSP00000262340.5:n.1451-20_1451-19insTGT
ENST00000262340.5:c.1451-20_1451-19insTGT	ENSP00000262340.5:n.1451-20_1451-19insTGT
NM_000329.2:c.1451-20_1451-19insTGT	NP_000320.1:n.1451-20_1451-19insTGT
XM_017002027.1:c.1175-20_1175-19insTGT	XP_016857516.1:n.1175-20_1175-19insTGT
NM_000329.3:c.1451-20_1451-19insTGT MANE Select	NP_000320.1:n.1451-20_1451-19insTGT