Canonical Allele Identifier: CA2744008992

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68429940_68429941insCT , CM000663.2:g.68429940_68429941insCT	GRCh38
NC_000001.10:g.68895623_68895624insCT , CM000663.1:g.68895623_68895624insCT	GRCh37
NC_000001.9:g.68668211_68668212insCT	NCBI36
NG_008472.1:g.25019_25020insAG
NG_008472.2:g.25019_25020insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1451-14_1451-13insAG MANE Select	ENSP00000262340.5:n.1451-14_1451-13insAG
ENST00000262340.5:c.1451-14_1451-13insAG	ENSP00000262340.5:n.1451-14_1451-13insAG
NM_000329.2:c.1451-14_1451-13insAG	NP_000320.1:n.1451-14_1451-13insAG
XM_017002027.1:c.1175-14_1175-13insAG	XP_016857516.1:n.1175-14_1175-13insAG
NM_000329.3:c.1451-14_1451-13insAG MANE Select	NP_000320.1:n.1451-14_1451-13insAG