Canonical Allele Identifier: CA2838572909
Gene: RPE65 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429812dup , CM000663.2:g.68429812dup GRCh38
NC_000001.10:g.68895495dup , CM000663.1:g.68895495dup GRCh37
NC_000001.9:g.68668083dup NCBI36
NG_008472.1:g.25150dup
NG_008472.2:g.25150dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1568dup MANE Select ENSP00000262340.5:p.Val524CysfsTer?
ENST00000262340.5:c.1568dup ENSP00000262340.5:p.Val524CysfsTer?
NM_000329.2:c.1568dup NP_000320.1:p.Val524CysfsTer?
XM_017002027.1:c.1292dup XP_016857516.1:p.Val432CysfsTer?
NM_000329.3:c.1568dup MANE Select NP_000320.1:p.Val524CysfsTer?
Search 100 bp 5'
Search 100 bp 3'