Canonical Allele Identifier: CA2744009000
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429952_68429953insC , CM000663.2:g.68429952_68429953insC GRCh38
NC_000001.10:g.68895635_68895636insC , CM000663.1:g.68895635_68895636insC GRCh37
NC_000001.9:g.68668223_68668224insC NCBI36
NG_008472.1:g.25007_25008insG
NG_008472.2:g.25007_25008insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-26_1451-25insG MANE Select ENSP00000262340.5:n.1451-26_1451-25insG
ENST00000262340.5:c.1451-26_1451-25insG ENSP00000262340.5:n.1451-26_1451-25insG
NM_000329.2:c.1451-26_1451-25insG NP_000320.1:n.1451-26_1451-25insG
XM_017002027.1:c.1175-26_1175-25insG XP_016857516.1:n.1175-26_1175-25insG
NM_000329.3:c.1451-26_1451-25insG MANE Select NP_000320.1:n.1451-26_1451-25insG