Canonical Allele Identifier: CA2744008990

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68429935_68429936insA , CM000663.2:g.68429935_68429936insA	GRCh38
NC_000001.10:g.68895618_68895619insA , CM000663.1:g.68895618_68895619insA	GRCh37
NC_000001.9:g.68668206_68668207insA	NCBI36
NG_008472.1:g.25024_25025insT
NG_008472.2:g.25024_25025insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1451-9_1451-8insT MANE Select	ENSP00000262340.5:n.1451-9_1451-8insT
ENST00000262340.5:c.1451-9_1451-8insT	ENSP00000262340.5:n.1451-9_1451-8insT
NM_000329.2:c.1451-9_1451-8insT	NP_000320.1:n.1451-9_1451-8insT
XM_017002027.1:c.1175-9_1175-8insT	XP_016857516.1:n.1175-9_1175-8insT
NM_000329.3:c.1451-9_1451-8insT MANE Select	NP_000320.1:n.1451-9_1451-8insT