Canonical Allele Identifier: CA2744008995

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68429946_68429947insAGA , CM000663.2:g.68429946_68429947insAGA	GRCh38
NC_000001.10:g.68895629_68895630insAGA , CM000663.1:g.68895629_68895630insAGA	GRCh37
NC_000001.9:g.68668217_68668218insAGA	NCBI36
NG_008472.1:g.25013_25014insTCT
NG_008472.2:g.25013_25014insTCT

Transcript Alleles

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