Canonical Allele Identifier: CA2744009100
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431397_68431398insAG , CM000663.2:g.68431397_68431398insAG GRCh38
NC_000001.10:g.68897080_68897081insAG , CM000663.1:g.68897080_68897081insAG GRCh37
NC_000001.9:g.68669668_68669669insAG NCBI36
NG_008472.1:g.23562_23563insCT
NG_008472.2:g.23562_23563insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1244-22_1244-21insCT MANE Select ENSP00000262340.5:n.1244-22_1244-21insCT
ENST00000262340.5:c.1244-22_1244-21insCT ENSP00000262340.5:n.1244-22_1244-21insCT
NM_000329.2:c.1244-22_1244-21insCT NP_000320.1:n.1244-22_1244-21insCT
XM_017002027.1:c.968-22_968-21insCT XP_016857516.1:n.968-22_968-21insCT
NM_000329.3:c.1244-22_1244-21insCT MANE Select NP_000320.1:n.1244-22_1244-21insCT