Canonical Allele Identifier: CA2586966985
Gene: RPE65 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431173_68431174insAG , CM000663.2:g.68431173_68431174insAG GRCh38
NC_000001.10:g.68896856_68896857insAG , CM000663.1:g.68896856_68896857insAG GRCh37
NC_000001.9:g.68669444_68669445insAG NCBI36
NG_008472.1:g.23786_23787insCT
NG_008472.2:g.23786_23787insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1341_1342insCT MANE Select ENSP00000262340.5:p.Cys448LeufsTer4
ENST00000262340.5:c.1341_1342insCT ENSP00000262340.5:p.Cys448LeufsTer4
NM_000329.2:c.1341_1342insCT NP_000320.1:p.Cys448LeufsTer4
XM_017002027.1:c.1065_1066insCT XP_016857516.1:p.Cys356LeufsTer4
NM_000329.3:c.1341_1342insCT MANE Select NP_000320.1:p.Cys448LeufsTer4
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