Canonical Allele Identifier: CA2646150352

Gene: RPE65

Linked Data

• gnomAD v4: 1-68444703-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444705del , CM000663.2:g.68444705del	GRCh38
NC_000001.10:g.68910388del , CM000663.1:g.68910388del	GRCh37
NC_000001.9:g.68682976del	NCBI36
NG_008472.1:g.10256del
NG_008472.2:g.10256del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262340.6:c.354-32del MANE Select	ENSP00000262340.5:n.354-32del
ENST00000262340.5:c.354-32del	ENSP00000262340.5:n.354-32del
NM_000329.2:c.354-32del	NP_000320.1:n.354-32del
XM_017002027.1:c.78-32del	XP_016857516.1:n.78-32del
NM_000329.3:c.354-32del MANE Select	NP_000320.1:n.354-32del