Canonical Allele Identifier: CA2646149685
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v4: 1-68429834-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429837del , CM000663.2:g.68429837del GRCh38
NC_000001.10:g.68895520del , CM000663.1:g.68895520del GRCh37
NC_000001.9:g.68668108del NCBI36
NG_008472.1:g.25125del
NG_008472.2:g.25125del

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.1543del MANE Select ENSP00000262340.5:p.Arg515GlyfsTer?
ENST00000262340.5:c.1543del ENSP00000262340.5:p.Arg515GlyfsTer?
NM_000329.2:c.1543del NP_000320.1:p.Arg515GlyfsTer?
XM_017002027.1:c.1267del XP_016857516.1:p.Arg423GlyfsTer?
NM_000329.3:c.1543del MANE Select NP_000320.1:p.Arg515GlyfsTer?
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Search 100 bp 3'