Canonical Allele Identifier: CA2586966734
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v4: 1-68438983-TTCATAG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438984_68438989del , CM000663.2:g.68438984_68438989del GRCh38
NC_000001.10:g.68904667_68904672del , CM000663.1:g.68904667_68904672del GRCh37
NC_000001.9:g.68677255_68677260del NCBI36
NG_008472.1:g.15971_15976del
NG_008472.2:g.15971_15976del

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.951_956del MANE Select ENSP00000262340.5:p.Tyr318_Glu319del
ENST00000262340.5:c.951_956del ENSP00000262340.5:p.Tyr318_Glu319del
NM_000329.2:c.951_956del NP_000320.1:p.Tyr318_Glu319del
XM_017002027.1:c.675_680del XP_016857516.1:p.Tyr226_Glu227del
NM_000329.3:c.951_956del MANE Select NP_000320.1:p.Tyr318_Glu319del
Search 100 bp 5'
Search 100 bp 3'