Canonical Allele Identifier: CA2646149746

Gene: RPE65

Linked Data

• gnomAD v4: 1-68430055-T-TCTTGCTTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68430055_68430056insCTTGCTTTA , CM000663.2:g.68430055_68430056insCTTGCTTTA	GRCh38
NC_000001.10:g.68895738_68895739insCTTGCTTTA , CM000663.1:g.68895738_68895739insCTTGCTTTA	GRCh37
NC_000001.9:g.68668326_68668327insCTTGCTTTA	NCBI36
NG_008472.1:g.24904_24905insTAAAGCAAG
NG_008472.2:g.24904_24905insTAAAGCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1451-129_1451-128insTAAAGCAAG MANE Select	ENSP00000262340.5:n.1451-129_1451-128insTAAAGCAAG
ENST00000262340.5:c.1451-129_1451-128insTAAAGCAAG	ENSP00000262340.5:n.1451-129_1451-128insTAAAGCAAG
NM_000329.2:c.1451-129_1451-128insTAAAGCAAG	NP_000320.1:n.1451-129_1451-128insTAAAGCAAG
XM_017002027.1:c.1175-129_1175-128insTAAAGCAAG	XP_016857516.1:n.1175-129_1175-128insTAAAGCAAG
NM_000329.3:c.1451-129_1451-128insTAAAGCAAG MANE Select	NP_000320.1:n.1451-129_1451-128insTAAAGCAAG