Canonical Allele Identifier: CA2744009038
Gene: RPE65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429998_68429999insC , CM000663.2:g.68429998_68429999insC GRCh38
NC_000001.10:g.68895681_68895682insC , CM000663.1:g.68895681_68895682insC GRCh37
NC_000001.9:g.68668269_68668270insC NCBI36
NG_008472.1:g.24961_24962insG
NG_008472.2:g.24961_24962insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-72_1451-71insG MANE Select ENSP00000262340.5:n.1451-72_1451-71insG
ENST00000262340.5:c.1451-72_1451-71insG ENSP00000262340.5:n.1451-72_1451-71insG
NM_000329.2:c.1451-72_1451-71insG NP_000320.1:n.1451-72_1451-71insG
XM_017002027.1:c.1175-72_1175-71insG XP_016857516.1:n.1175-72_1175-71insG
NM_000329.3:c.1451-72_1451-71insG MANE Select NP_000320.1:n.1451-72_1451-71insG