Canonical Allele Identifier: CA2838032298
Gene: RPE65 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429834del , CM000663.2:g.68429834del GRCh38
NC_000001.10:g.68895517del , CM000663.1:g.68895517del GRCh37
NC_000001.9:g.68668105del NCBI36
NG_008472.1:g.25128del
NG_008472.2:g.25128del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1546del MANE Select ENSP00000262340.5:p.Ala516LeufsTer?
ENST00000262340.5:c.1546del ENSP00000262340.5:p.Ala516LeufsTer?
NM_000329.2:c.1546del NP_000320.1:p.Ala516LeufsTer?
XM_017002027.1:c.1270del XP_016857516.1:p.Ala424LeufsTer?
NM_000329.3:c.1546del MANE Select NP_000320.1:p.Ala516LeufsTer?
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