Canonical Allele Identifier: CA2646149706
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v4: 1-68429936-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429937del , CM000663.2:g.68429937del GRCh38
NC_000001.10:g.68895620del , CM000663.1:g.68895620del GRCh37
NC_000001.9:g.68668208del NCBI36
NG_008472.1:g.25023del
NG_008472.2:g.25023del

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.1451-10del MANE Select ENSP00000262340.5:n.1451-10del
ENST00000262340.5:c.1451-10del ENSP00000262340.5:n.1451-10del
NM_000329.2:c.1451-10del NP_000320.1:n.1451-10del
XM_017002027.1:c.1175-10del XP_016857516.1:n.1175-10del
NM_000329.3:c.1451-10del MANE Select NP_000320.1:n.1451-10del
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