Canonical Allele Identifier: CA2646149671
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v4: 1-68429739-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429740del , CM000663.2:g.68429740del GRCh38
NC_000001.10:g.68895423del , CM000663.1:g.68895423del GRCh37
NC_000001.9:g.68668011del NCBI36
NG_008472.1:g.25220del
NG_008472.2:g.25220del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.*36del MANE Select ENSP00000262340.5:n.*36del
ENST00000262340.5:c.*36del ENSP00000262340.5:n.*36del
NM_000329.2:c.*36del NP_000320.1:n.*36del
XM_017002027.1:c.*36del XP_016857516.1:n.*36del
NM_000329.3:c.*36del MANE Select NP_000320.1:n.*36del
Search 100 bp 5'
Search 100 bp 3'