Canonical Allele Identifier: CA2646149540
Gene: RPE65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429642del , CM000663.2:g.68429642del GRCh38
NC_000001.10:g.68895325del , CM000663.1:g.68895325del GRCh37
NC_000001.9:g.68667913del NCBI36
NG_008472.1:g.25321del
NG_008472.2:g.25321del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.*137del MANE Select ENSP00000262340.5:n.*137del
ENST00000262340.5:c.*137del ENSP00000262340.5:n.*137del
NM_000329.2:c.*137del NP_000320.1:n.*137del
XM_017002027.1:c.*137del XP_016857516.1:n.*137del
NM_000329.3:c.*137del MANE Select NP_000320.1:n.*137del