Canonical Allele Identifier: CA2186513611
Gene: NR2E3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811570_71811573delinsGCTT , CM000677.2:g.71811570_71811573delinsGCTT GRCh38
NC_000015.9:g.72103910_72103913delinsGCTT , CM000677.1:g.72103910_72103913delinsGCTT GRCh37
NC_000015.8:g.69890964_69890967delinsGCTT NCBI36
NG_009113.2:g.6016_6019delinsGCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.206_209delinsGCTT MANE Select ENSP00000482504.1:p.Gly69=
ENST00000617575.4:c.206_209delinsGCTT ENSP00000482504.1:p.Gly69=
ENST00000621098.1:c.206_209delinsGCTT ENSP00000479962.1:p.Gly69=
ENST00000621736.4:c.-59_-56delinsGCTT ENSP00000479254.1:n.-59_-56delinsGCTT
NM_014249.3:c.206_209delinsGCTT NP_055064.1:p.Gly69=
NM_016346.3:c.206_209delinsGCTT NP_057430.1:p.Gly69=
XM_011521146.1:c.-59_-56delinsGCTT XP_011519448.1:n.-59_-56delinsGCTT
NM_014249.4:c.206_209delinsGCTT MANE Select NP_055064.1:p.Gly69=
NM_016346.4:c.206_209delinsGCTT NP_057430.1:p.Gly69=