Canonical Allele Identifier: CA645525123
Gene: RPE65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429877_68429878insT , CM000663.2:g.68429877_68429878insT GRCh38
NC_000001.10:g.68895560_68895561insT , CM000663.1:g.68895560_68895561insT GRCh37
NC_000001.9:g.68668148_68668149insT NCBI36
NG_008472.1:g.25082_25083insA
NG_008472.2:g.25082_25083insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1500_1501insA MANE Select ENSP00000262340.5:p.Tyr501IlefsTer12
ENST00000262340.5:c.1500_1501insA ENSP00000262340.5:p.Tyr501IlefsTer12
NM_000329.2:c.1500_1501insA NP_000320.1:p.Tyr501IlefsTer12
XM_017002027.1:c.1224_1225insA XP_016857516.1:p.Tyr409IlefsTer12
NM_000329.3:c.1500_1501insA MANE Select NP_000320.1:p.Tyr501IlefsTer12