Canonical Allele Identifier: CA2744009053
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68430020_68430021insA , CM000663.2:g.68430020_68430021insA GRCh38
NC_000001.10:g.68895703_68895704insA , CM000663.1:g.68895703_68895704insA GRCh37
NC_000001.9:g.68668291_68668292insA NCBI36
NG_008472.1:g.24939_24940insT
NG_008472.2:g.24939_24940insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-94_1451-93insT MANE Select ENSP00000262340.5:n.1451-94_1451-93insT
ENST00000262340.5:c.1451-94_1451-93insT ENSP00000262340.5:n.1451-94_1451-93insT
NM_000329.2:c.1451-94_1451-93insT NP_000320.1:n.1451-94_1451-93insT
XM_017002027.1:c.1175-94_1175-93insT XP_016857516.1:n.1175-94_1175-93insT
NM_000329.3:c.1451-94_1451-93insT MANE Select NP_000320.1:n.1451-94_1451-93insT