Canonical Allele Identifier: CA2646149584
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v4: 1-68429658-CGCATCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429662_68429667del , CM000663.2:g.68429662_68429667del GRCh38
NC_000001.10:g.68895345_68895350del , CM000663.1:g.68895345_68895350del GRCh37
NC_000001.9:g.68667933_68667938del NCBI36
NG_008472.1:g.25296_25301del
NG_008472.2:g.25296_25301del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.*112_*117del MANE Select ENSP00000262340.5:n.*112_*117del
ENST00000262340.5:c.*112_*117del ENSP00000262340.5:n.*112_*117del
NM_000329.2:c.*112_*117del NP_000320.1:n.*112_*117del
XM_017002027.1:c.*112_*117del XP_016857516.1:n.*112_*117del
NM_000329.3:c.*112_*117del MANE Select NP_000320.1:n.*112_*117del
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