Canonical Allele Identifier: CA1173557480
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429951_68429952delinsCA , CM000663.2:g.68429951_68429952delinsCA GRCh38
NC_000001.10:g.68895634_68895635delinsCA , CM000663.1:g.68895634_68895635delinsCA GRCh37
NC_000001.9:g.68668222_68668223delinsCA NCBI36
NG_008472.1:g.25008_25009delinsTG
NG_008472.2:g.25008_25009delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-25_1451-24delinsTG MANE Select ENSP00000262340.5:n.1451-25_1451-24delinsTG
ENST00000262340.5:c.1451-25_1451-24delinsTG ENSP00000262340.5:n.1451-25_1451-24delinsTG
NM_000329.2:c.1451-25_1451-24delinsTG NP_000320.1:n.1451-25_1451-24delinsTG
XM_017002027.1:c.1175-25_1175-24delinsTG XP_016857516.1:n.1175-25_1175-24delinsTG
NM_000329.3:c.1451-25_1451-24delinsTG MANE Select NP_000320.1:n.1451-25_1451-24delinsTG