Canonical Allele Identifier: CA2744008996
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429949_68429950insT , CM000663.2:g.68429949_68429950insT GRCh38
NC_000001.10:g.68895632_68895633insT , CM000663.1:g.68895632_68895633insT GRCh37
NC_000001.9:g.68668220_68668221insT NCBI36
NG_008472.1:g.25010_25011insA
NG_008472.2:g.25010_25011insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-23_1451-22insA MANE Select ENSP00000262340.5:n.1451-23_1451-22insA
ENST00000262340.5:c.1451-23_1451-22insA ENSP00000262340.5:n.1451-23_1451-22insA
NM_000329.2:c.1451-23_1451-22insA NP_000320.1:n.1451-23_1451-22insA
XM_017002027.1:c.1175-23_1175-22insA XP_016857516.1:n.1175-23_1175-22insA
NM_000329.3:c.1451-23_1451-22insA MANE Select NP_000320.1:n.1451-23_1451-22insA