Canonical Allele Identifier: CA523749680
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v2: 1-68896822-ACCCAAGTTTCTTTAGTTTTGACATTCAGCTT-A
gnomAD v4: 1-68431139-ACCCAAGTTTCTTTAGTTTTGACATTCAGCTT-A
MyVariant Identifiers: chr1:g.68896823_68896853del (hg19) chr1:g.68431140_68431170del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431140_68431170del , CM000663.2:g.68431140_68431170del GRCh38
NC_000001.10:g.68896823_68896853del , CM000663.1:g.68896823_68896853del GRCh37
NC_000001.9:g.68669411_68669441del NCBI36
NG_008472.1:g.23790_23820del
NG_008472.2:g.23790_23820del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1345_1375del MANE Select ENSP00000262340.5:p.Lys449PhefsTer27
ENST00000262340.5:c.1345_1375del ENSP00000262340.5:p.Lys449PhefsTer27
NM_000329.2:c.1345_1375del NP_000320.1:p.Lys449PhefsTer27
XM_017002027.1:c.1069_1099del XP_016857516.1:p.Lys357PhefsTer27
NM_000329.3:c.1345_1375del MANE Select NP_000320.1:p.Lys449PhefsTer27
Search 100 bp 5'
Search 100 bp 3'