Canonical Allele Identifier: CA1173558059
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1645825845
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431489del , CM000663.2:g.68431489del GRCh38
NC_000001.10:g.68897172del , CM000663.1:g.68897172del GRCh37
NC_000001.9:g.68669760del NCBI36
NG_008472.1:g.23474del
NG_008472.2:g.23474del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1228del MANE Select ENSP00000262340.5:p.Ser410GlnfsTer30
ENST00000262340.5:c.1228del ENSP00000262340.5:p.Ser410GlnfsTer30
NM_000329.2:c.1228del NP_000320.1:p.Ser410GlnfsTer30
XM_017002027.1:c.952del XP_016857516.1:p.Ser318GlnfsTer30
NM_000329.3:c.1228del MANE Select NP_000320.1:p.Ser410GlnfsTer30
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