Canonical Allele Identifier: CA2744009089
Gene: RPE65 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431144_68431145insCACA , CM000663.2:g.68431144_68431145insCACA GRCh38
NC_000001.10:g.68896827_68896828insCACA , CM000663.1:g.68896827_68896828insCACA GRCh37
NC_000001.9:g.68669415_68669416insCACA NCBI36
NG_008472.1:g.23816_23817insGTGT
NG_008472.2:g.23816_23817insGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1371_1372insGTGT MANE Select ENSP00000262340.5:p.Trp458ValfsTer8
ENST00000262340.5:c.1371_1372insGTGT ENSP00000262340.5:p.Trp458ValfsTer8
NM_000329.2:c.1371_1372insGTGT NP_000320.1:p.Trp458ValfsTer8
XM_017002027.1:c.1095_1096insGTGT XP_016857516.1:p.Trp366ValfsTer8
NM_000329.3:c.1371_1372insGTGT MANE Select NP_000320.1:p.Trp458ValfsTer8
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