Canonical Allele Identifier: CA2186513503

Gene: NR2E3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811427_71811443delinsGCAGCCCTGCCCCGGCC , CM000677.2:g.71811427_71811443delinsGCAGCCCTGCCCCGGCC	GRCh38
NC_000015.9:g.72103767_72103783delinsGCAGCCCTGCCCCGGCC , CM000677.1:g.72103767_72103783delinsGCAGCCCTGCCCCGGCC	GRCh37
NC_000015.8:g.69890821_69890837delinsGCAGCCCTGCCCCGGCC	NCBI36
NG_009113.2:g.5873_5889delinsGCAGCCCTGCCCCGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.119-56_119-40delinsGCAGCCCTGCCCCGGCC MANE Select	ENSP00000482504.1:n.119-56_119-40delinsGCAGCCCTGCCCCGGCC
ENST00000617575.4:c.119-56_119-40delinsGCAGCCCTGCCCCGGCC	ENSP00000482504.1:n.119-56_119-40delinsGCAGCCCTGCCCCGGCC
ENST00000621098.1:c.119-56_119-40delinsGCAGCCCTGCCCCGGCC	ENSP00000479962.1:n.119-56_119-40delinsGCAGCCCTGCCCCGGCC
ENST00000621736.4:c.-146-56_-146-40delinsGCAGCCCTGCCCCGGCC	ENSP00000479254.1:n.-146-56_-146-40delinsGCAGCCCTGCCCCGGCC
NM_014249.3:c.119-56_119-40delinsGCAGCCCTGCCCCGGCC	NP_055064.1:n.119-56_119-40delinsGCAGCCCTGCCCCGGCC
NM_016346.3:c.119-56_119-40delinsGCAGCCCTGCCCCGGCC	NP_057430.1:n.119-56_119-40delinsGCAGCCCTGCCCCGGCC
XM_011521146.1:c.-146-56_-146-40delinsGCAGCCCTGCCCCGGCC	XP_011519448.1:n.-146-56_-146-40delinsGCAGCCCTGCCCCGGCC
NM_014249.4:c.119-56_119-40delinsGCAGCCCTGCCCCGGCC MANE Select	NP_055064.1:n.119-56_119-40delinsGCAGCCCTGCCCCGGCC
NM_016346.4:c.119-56_119-40delinsGCAGCCCTGCCCCGGCC	NP_057430.1:n.119-56_119-40delinsGCAGCCCTGCCCCGGCC