Canonical Allele Identifier: CA2744008993

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68429947del , CM000663.2:g.68429947del	GRCh38
NC_000001.10:g.68895630del , CM000663.1:g.68895630del	GRCh37
NC_000001.9:g.68668218del	NCBI36
NG_008472.1:g.25014del
NG_008472.2:g.25014del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262340.6:c.1451-19del MANE Select	ENSP00000262340.5:n.1451-19del
ENST00000262340.5:c.1451-19del	ENSP00000262340.5:n.1451-19del
NM_000329.2:c.1451-19del	NP_000320.1:n.1451-19del
XM_017002027.1:c.1175-19del	XP_016857516.1:n.1175-19del
NM_000329.3:c.1451-19del MANE Select	NP_000320.1:n.1451-19del