Canonical Allele Identifier: CA2744008986

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68429929_68429930insA , CM000663.2:g.68429929_68429930insA	GRCh38
NC_000001.10:g.68895612_68895613insA , CM000663.1:g.68895612_68895613insA	GRCh37
NC_000001.9:g.68668200_68668201insA	NCBI36
NG_008472.1:g.25030_25031insT
NG_008472.2:g.25030_25031insT

Transcript Alleles

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