Canonical Allele Identifier: CA2744008988

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68429932_68429933insACA , CM000663.2:g.68429932_68429933insACA	GRCh38
NC_000001.10:g.68895615_68895616insACA , CM000663.1:g.68895615_68895616insACA	GRCh37
NC_000001.9:g.68668203_68668204insACA	NCBI36
NG_008472.1:g.25027_25028insTGT
NG_008472.2:g.25027_25028insTGT

Transcript Alleles

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