Canonical Allele Identifier: CA2543706020

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444783del , CM000663.2:g.68444783del	GRCh38
NC_000001.10:g.68910466del , CM000663.1:g.68910466del	GRCh37
NC_000001.9:g.68683054del	NCBI36
NG_008472.1:g.10180del
NG_008472.2:g.10180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.349del MANE Select	ENSP00000262340.5:p.Ser117ProfsTer10
ENST00000262340.5:c.349del	ENSP00000262340.5:p.Ser117ProfsTer10
NM_000329.2:c.349del	NP_000320.1:p.Ser117ProfsTer10
XM_017002027.1:c.73del	XP_016857516.1:p.Ser25ProfsTer10
NM_000329.3:c.349del MANE Select	NP_000320.1:p.Ser117ProfsTer10