Canonical Allele Identifier: CA2697549190

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 2754561
• ClinVar RCV Id: RCV003563929

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811592_71811599dup , CM000677.2:g.71811592_71811599dup	GRCh38
NC_000015.9:g.72103932_72103939dup , CM000677.1:g.72103932_72103939dup	GRCh37
NC_000015.8:g.69890986_69890993dup	NCBI36
NG_009113.2:g.6038_6045dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.228_235dup MANE Select	ENSP00000482504.1:p.Leu79ArgfsTer30
ENST00000617575.4:c.228_235dup	ENSP00000482504.1:p.Leu79ArgfsTer30
ENST00000621098.1:c.228_235dup	ENSP00000479962.1:p.Leu79ArgfsTer30
ENST00000621736.4:c.-37_-30dup	ENSP00000479254.1:n.-37_-30dup
NM_014249.3:c.228_235dup	NP_055064.1:p.Leu79ArgfsTer30
NM_016346.3:c.228_235dup	NP_057430.1:p.Leu79ArgfsTer30
XM_011521146.1:c.-37_-30dup	XP_011519448.1:n.-37_-30dup
NM_014249.4:c.228_235dup MANE Select	NP_055064.1:p.Leu79ArgfsTer30
NM_016346.4:c.228_235dup	NP_057430.1:p.Leu79ArgfsTer30