Canonical Allele Identifier: CA2646149574
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v4: 1-68429655-GTGCGCATC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429659_68429666del , CM000663.2:g.68429659_68429666del GRCh38
NC_000001.10:g.68895342_68895349del , CM000663.1:g.68895342_68895349del GRCh37
NC_000001.9:g.68667930_68667937del NCBI36
NG_008472.1:g.25297_25304del
NG_008472.2:g.25297_25304del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.*113_*120del MANE Select ENSP00000262340.5:n.*113_*120del
ENST00000262340.5:c.*113_*120del ENSP00000262340.5:n.*113_*120del
NM_000329.2:c.*113_*120del NP_000320.1:n.*113_*120del
XM_017002027.1:c.*113_*120del XP_016857516.1:n.*113_*120del
NM_000329.3:c.*113_*120del MANE Select NP_000320.1:n.*113_*120del
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Search 100 bp 3'