Canonical Allele Identifier: CA2744008989

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68429934_68429935insCTT , CM000663.2:g.68429934_68429935insCTT	GRCh38
NC_000001.10:g.68895617_68895618insCTT , CM000663.1:g.68895617_68895618insCTT	GRCh37
NC_000001.9:g.68668205_68668206insCTT	NCBI36
NG_008472.1:g.25025_25026insAAG
NG_008472.2:g.25025_25026insAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1451-8_1451-7insAAG MANE Select	ENSP00000262340.5:n.1451-8_1451-7insAAG
ENST00000262340.5:c.1451-8_1451-7insAAG	ENSP00000262340.5:n.1451-8_1451-7insAAG
NM_000329.2:c.1451-8_1451-7insAAG	NP_000320.1:n.1451-8_1451-7insAAG
XM_017002027.1:c.1175-8_1175-7insAAG	XP_016857516.1:n.1175-8_1175-7insAAG
NM_000329.3:c.1451-8_1451-7insAAG MANE Select	NP_000320.1:n.1451-8_1451-7insAAG