Canonical Allele Identifier: CA2186513602

Gene: NR2E3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811558_71811567delinsACGGCTGCAG , CM000677.2:g.71811558_71811567delinsACGGCTGCAG	GRCh38
NC_000015.9:g.72103898_72103907delinsACGGCTGCAG , CM000677.1:g.72103898_72103907delinsACGGCTGCAG	GRCh37
NC_000015.8:g.69890952_69890961delinsACGGCTGCAG	NCBI36
NG_009113.2:g.6004_6013delinsACGGCTGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.194_203delinsACGGCTGCAG MANE Select	ENSP00000482504.1:p.Asn65=
ENST00000617575.4:c.194_203delinsACGGCTGCAG	ENSP00000482504.1:p.Asn65=
ENST00000621098.1:c.194_203delinsACGGCTGCAG	ENSP00000479962.1:p.Asn65=
ENST00000621736.4:c.-71_-62delinsACGGCTGCAG	ENSP00000479254.1:n.-71_-62delinsACGGCTGCAG
NM_014249.3:c.194_203delinsACGGCTGCAG	NP_055064.1:p.Asn65=
NM_016346.3:c.194_203delinsACGGCTGCAG	NP_057430.1:p.Asn65=
XM_011521146.1:c.-71_-62delinsACGGCTGCAG	XP_011519448.1:n.-71_-62delinsACGGCTGCAG
NM_014249.4:c.194_203delinsACGGCTGCAG MANE Select	NP_055064.1:p.Asn65=
NM_016346.4:c.194_203delinsACGGCTGCAG	NP_057430.1:p.Asn65=