Canonical Allele Identifier: CA2744009030
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429989_68429990insA , CM000663.2:g.68429989_68429990insA GRCh38
NC_000001.10:g.68895672_68895673insA , CM000663.1:g.68895672_68895673insA GRCh37
NC_000001.9:g.68668260_68668261insA NCBI36
NG_008472.1:g.24970_24971insT
NG_008472.2:g.24970_24971insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-63_1451-62insT MANE Select ENSP00000262340.5:n.1451-63_1451-62insT
ENST00000262340.5:c.1451-63_1451-62insT ENSP00000262340.5:n.1451-63_1451-62insT
NM_000329.2:c.1451-63_1451-62insT NP_000320.1:n.1451-63_1451-62insT
XM_017002027.1:c.1175-63_1175-62insT XP_016857516.1:n.1175-63_1175-62insT
NM_000329.3:c.1451-63_1451-62insT MANE Select NP_000320.1:n.1451-63_1451-62insT