Canonical Allele Identifier: CA2186513582

Gene: NR2E3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811525_71811533delinsGCAGCGGGA , CM000677.2:g.71811525_71811533delinsGCAGCGGGA	GRCh38
NC_000015.9:g.72103865_72103873delinsGCAGCGGGA , CM000677.1:g.72103865_72103873delinsGCAGCGGGA	GRCh37
NC_000015.8:g.69890919_69890927delinsGCAGCGGGA	NCBI36
NG_009113.2:g.5971_5979delinsGCAGCGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.161_169delinsGCAGCGGGA MANE Select	ENSP00000482504.1:p.Ser54=
ENST00000617575.4:c.161_169delinsGCAGCGGGA	ENSP00000482504.1:p.Ser54=
ENST00000621098.1:c.161_169delinsGCAGCGGGA	ENSP00000479962.1:p.Ser54=
ENST00000621736.4:c.-104_-96delinsGCAGCGGGA	ENSP00000479254.1:n.-104_-96delinsGCAGCGGGA
NM_014249.3:c.161_169delinsGCAGCGGGA	NP_055064.1:p.Ser54=
NM_016346.3:c.161_169delinsGCAGCGGGA	NP_057430.1:p.Ser54=
XM_011521146.1:c.-104_-96delinsGCAGCGGGA	XP_011519448.1:n.-104_-96delinsGCAGCGGGA
NM_014249.4:c.161_169delinsGCAGCGGGA MANE Select	NP_055064.1:p.Ser54=
NM_016346.4:c.161_169delinsGCAGCGGGA	NP_057430.1:p.Ser54=