Canonical Allele Identifier: CA2186513523

Gene: NR2E3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811450_71811461delinsTGCCCTGGCCCA , CM000677.2:g.71811450_71811461delinsTGCCCTGGCCCA	GRCh38
NC_000015.9:g.72103790_72103801delinsTGCCCTGGCCCA , CM000677.1:g.72103790_72103801delinsTGCCCTGGCCCA	GRCh37
NC_000015.8:g.69890844_69890855delinsTGCCCTGGCCCA	NCBI36
NG_009113.2:g.5896_5907delinsTGCCCTGGCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.119-33_119-22delinsTGCCCTGGCCCA MANE Select	ENSP00000482504.1:n.119-33_119-22delinsTGCCCTGGCCCA
ENST00000617575.4:c.119-33_119-22delinsTGCCCTGGCCCA	ENSP00000482504.1:n.119-33_119-22delinsTGCCCTGGCCCA
ENST00000621098.1:c.119-33_119-22delinsTGCCCTGGCCCA	ENSP00000479962.1:n.119-33_119-22delinsTGCCCTGGCCCA
ENST00000621736.4:c.-146-33_-146-22delinsTGCCCTGGCCCA	ENSP00000479254.1:n.-146-33_-146-22delinsTGCCCTGGCCCA
NM_014249.3:c.119-33_119-22delinsTGCCCTGGCCCA	NP_055064.1:n.119-33_119-22delinsTGCCCTGGCCCA
NM_016346.3:c.119-33_119-22delinsTGCCCTGGCCCA	NP_057430.1:n.119-33_119-22delinsTGCCCTGGCCCA
XM_011521146.1:c.-146-33_-146-22delinsTGCCCTGGCCCA	XP_011519448.1:n.-146-33_-146-22delinsTGCCCTGGCCCA
NM_014249.4:c.119-33_119-22delinsTGCCCTGGCCCA MANE Select	NP_055064.1:n.119-33_119-22delinsTGCCCTGGCCCA
NM_016346.4:c.119-33_119-22delinsTGCCCTGGCCCA	NP_057430.1:n.119-33_119-22delinsTGCCCTGGCCCA