Canonical Allele Identifier: CA2744009088
Gene: RPE65 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431140_68431141insACAC , CM000663.2:g.68431140_68431141insACAC GRCh38
NC_000001.10:g.68896823_68896824insACAC , CM000663.1:g.68896823_68896824insACAC GRCh37
NC_000001.9:g.68669411_68669412insACAC NCBI36
NG_008472.1:g.23821_23822insGTGT
NG_008472.2:g.23821_23822insGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1376_1377insGTGT MANE Select ENSP00000262340.5:p.Trp460CysfsTer6
ENST00000262340.5:c.1376_1377insGTGT ENSP00000262340.5:p.Trp460CysfsTer6
NM_000329.2:c.1376_1377insGTGT NP_000320.1:p.Trp460CysfsTer6
XM_017002027.1:c.1100_1101insGTGT XP_016857516.1:p.Trp368CysfsTer6
NM_000329.3:c.1376_1377insGTGT MANE Select NP_000320.1:p.Trp460CysfsTer6
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