Canonical Allele Identifier: CA2186513527

Gene: NR2E3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811452_71811467delinsCCCTGGCCCAGCCCTG , CM000677.2:g.71811452_71811467delinsCCCTGGCCCAGCCCTG	GRCh38
NC_000015.9:g.72103792_72103807delinsCCCTGGCCCAGCCCTG , CM000677.1:g.72103792_72103807delinsCCCTGGCCCAGCCCTG	GRCh37
NC_000015.8:g.69890846_69890861delinsCCCTGGCCCAGCCCTG	NCBI36
NG_009113.2:g.5898_5913delinsCCCTGGCCCAGCCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.119-31_119-16delinsCCCTGGCCCAGCCCTG MANE Select	ENSP00000482504.1:n.119-31_119-16delinsCCCTGGCCCAGCCCTG
ENST00000617575.4:c.119-31_119-16delinsCCCTGGCCCAGCCCTG	ENSP00000482504.1:n.119-31_119-16delinsCCCTGGCCCAGCCCTG
ENST00000621098.1:c.119-31_119-16delinsCCCTGGCCCAGCCCTG	ENSP00000479962.1:n.119-31_119-16delinsCCCTGGCCCAGCCCTG
ENST00000621736.4:c.-146-31_-146-16delinsCCCTGGCCCAGCCCTG	ENSP00000479254.1:n.-146-31_-146-16delinsCCCTGGCCCAGCCCTG
NM_014249.3:c.119-31_119-16delinsCCCTGGCCCAGCCCTG	NP_055064.1:n.119-31_119-16delinsCCCTGGCCCAGCCCTG
NM_016346.3:c.119-31_119-16delinsCCCTGGCCCAGCCCTG	NP_057430.1:n.119-31_119-16delinsCCCTGGCCCAGCCCTG
XM_011521146.1:c.-146-31_-146-16delinsCCCTGGCCCAGCCCTG	XP_011519448.1:n.-146-31_-146-16delinsCCCTGGCCCAGCCCTG
NM_014249.4:c.119-31_119-16delinsCCCTGGCCCAGCCCTG MANE Select	NP_055064.1:n.119-31_119-16delinsCCCTGGCCCAGCCCTG
NM_016346.4:c.119-31_119-16delinsCCCTGGCCCAGCCCTG	NP_057430.1:n.119-31_119-16delinsCCCTGGCCCAGCCCTG