Canonical Allele Identifier: CA715428599

Gene: NR2E3

Linked Data

• dbSNP Id: rs1407612459
• MyVariant Identifiers: chr15:g.72103845_72103846insCAGTGTGCCTCCAGTGCCT (hg19) ; chr15:g.71811505_71811506insCAGTGTGCCTCCAGTGCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811506_71811507insAGTGTGCCTCCAGTGCCTC , CM000677.2:g.71811506_71811507insAGTGTGCCTCCAGTGCCTC	GRCh38
NC_000015.9:g.72103846_72103847insAGTGTGCCTCCAGTGCCTC , CM000677.1:g.72103846_72103847insAGTGTGCCTCCAGTGCCTC	GRCh37
NC_000015.8:g.69890900_69890901insAGTGTGCCTCCAGTGCCTC	NCBI36
NG_009113.2:g.5952_5953insAGTGTGCCTCCAGTGCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.142_143insAGTGTGCCTCCAGTGCCTC MANE Select	ENSP00000482504.1:p.Arg48GlnfsTer?
ENST00000617575.4:c.142_143insAGTGTGCCTCCAGTGCCTC	ENSP00000482504.1:p.Arg48GlnfsTer?
ENST00000621098.1:c.142_143insAGTGTGCCTCCAGTGCCTC	ENSP00000479962.1:p.Arg48GlnfsTer?
ENST00000621736.4:c.-123_-122insAGTGTGCCTCCAGTGCCTC	ENSP00000479254.1:n.-123_-122insAGTGTGCCTCCAGTGCCTC
NM_014249.3:c.142_143insAGTGTGCCTCCAGTGCCTC	NP_055064.1:p.Arg48GlnfsTer?
NM_016346.3:c.142_143insAGTGTGCCTCCAGTGCCTC	NP_057430.1:p.Arg48GlnfsTer?
XM_011521146.1:c.-123_-122insAGTGTGCCTCCAGTGCCTC	XP_011519448.1:n.-123_-122insAGTGTGCCTCCAGTGCCTC
NM_014249.4:c.142_143insAGTGTGCCTCCAGTGCCTC MANE Select	NP_055064.1:p.Arg48GlnfsTer?
NM_016346.4:c.142_143insAGTGTGCCTCCAGTGCCTC	NP_057430.1:p.Arg48GlnfsTer?