Canonical Allele Identifier: CA23575009
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 559521
ClinVar RCV Id: RCV000754975 RCV001387317 RCV003768021 RCV003465542
dbSNP Id: rs121918844
gnomAD v3: 1-68444664-G-GA
gnomAD v4: 1-68444664-G-GA
MyVariant Identifiers: chr1:g.68910347_68910348insA (hg19) chr1:g.68444664_68444665insA (hg38)
ERepo: CA23575009/MONDO:0100368/120
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444671dup , CM000663.2:g.68444671dup GRCh38
NC_000001.10:g.68910354dup , CM000663.1:g.68910354dup GRCh37
NC_000001.9:g.68682942dup NCBI36
NG_008472.1:g.10295dup
NG_008472.2:g.10295dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.361dup MANE Select ENSP00000262340.5:p.Ser121PhefsTer10
ENST00000262340.5:c.361dup ENSP00000262340.5:p.Ser121PhefsTer10
NM_000329.2:c.361dup NP_000320.1:p.Ser121PhefsTer10
XM_017002027.1:c.85dup XP_016857516.1:p.Ser29PhefsTer10
NM_000329.3:c.361dup MANE Select NP_000320.1:p.Ser121PhefsTer10
Search 100 bp 5'
Search 100 bp 3'