Canonical Allele Identifier: CA971316639

Gene: NR2E3

Linked Data

• dbSNP Id: rs2054178351
• gnomAD v3: 15-71811445-A-AGCCAT
• gnomAD v4: 15-71811445-A-AGCCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811448_71811449insATGCC , CM000677.2:g.71811448_71811449insATGCC	GRCh38
NC_000015.9:g.72103788_72103789insATGCC , CM000677.1:g.72103788_72103789insATGCC	GRCh37
NC_000015.8:g.69890842_69890843insATGCC	NCBI36
NG_009113.2:g.5894_5895insATGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.119-35_119-34insATGCC MANE Select	ENSP00000482504.1:n.119-35_119-34insATGCC
ENST00000617575.4:c.119-35_119-34insATGCC	ENSP00000482504.1:n.119-35_119-34insATGCC
ENST00000621098.1:c.119-35_119-34insATGCC	ENSP00000479962.1:n.119-35_119-34insATGCC
ENST00000621736.4:c.-146-35_-146-34insATGCC	ENSP00000479254.1:n.-146-35_-146-34insATGCC
NM_014249.3:c.119-35_119-34insATGCC	NP_055064.1:n.119-35_119-34insATGCC
NM_016346.3:c.119-35_119-34insATGCC	NP_057430.1:n.119-35_119-34insATGCC
XM_011521146.1:c.-146-35_-146-34insATGCC	XP_011519448.1:n.-146-35_-146-34insATGCC
NM_014249.4:c.119-35_119-34insATGCC MANE Select	NP_055064.1:n.119-35_119-34insATGCC
NM_016346.4:c.119-35_119-34insATGCC	NP_057430.1:n.119-35_119-34insATGCC