Canonical Allele Identifier: CA2646149670
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v4: 1-68429737-TCA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429738_68429739del , CM000663.2:g.68429738_68429739del GRCh38
NC_000001.10:g.68895421_68895422del , CM000663.1:g.68895421_68895422del GRCh37
NC_000001.9:g.68668009_68668010del NCBI36
NG_008472.1:g.25221_25222del
NG_008472.2:g.25221_25222del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.*37_*38del MANE Select ENSP00000262340.5:n.*37_*38del
ENST00000262340.5:c.*37_*38del ENSP00000262340.5:n.*37_*38del
NM_000329.2:c.*37_*38del NP_000320.1:n.*37_*38del
XM_017002027.1:c.*37_*38del XP_016857516.1:n.*37_*38del
NM_000329.3:c.*37_*38del MANE Select NP_000320.1:n.*37_*38del
Search 100 bp 5'
Search 100 bp 3'