Canonical Allele Identifier: CA902496
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs765844982
ExAC: 1:68910200 GCACTGTGTCC / G
gnomAD v2: 1-68910200-GCACTGTGTCC-G
MyVariant Identifiers: chr1:g.68910201_68910210del (hg19) chr1:g.68444518_68444527del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444521_68444530del , CM000663.2:g.68444521_68444530del GRCh38
NC_000001.10:g.68910204_68910213del , CM000663.1:g.68910204_68910213del GRCh37
NC_000001.9:g.68682792_68682801del NCBI36
NG_008472.1:g.10433_10442del
NG_008472.2:g.10433_10442del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.495+4_495+13del MANE Select ENSP00000262340.5:n.495+4_495+13del
ENST00000262340.5:c.495+4_495+13del ENSP00000262340.5:n.495+4_495+13del
NM_000329.2:c.495+4_495+13del NP_000320.1:n.495+4_495+13del
XM_017002027.1:c.219+4_219+13del XP_016857516.1:n.219+4_219+13del
NM_000329.3:c.495+4_495+13del MANE Select NP_000320.1:n.495+4_495+13del
Search 100 bp 5'
Search 100 bp 3'