Canonical Allele Identifier: CA2629291456

Gene: NR2E3

Linked Data

• gnomAD v4: 15-71811410-GGGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811414_71811417del , CM000677.2:g.71811414_71811417del	GRCh38
NC_000015.9:g.72103754_72103757del , CM000677.1:g.72103754_72103757del	GRCh37
NC_000015.8:g.69890808_69890811del	NCBI36
NG_009113.2:g.5860_5863del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.119-69_119-66del MANE Select	ENSP00000482504.1:n.119-69_119-66del
ENST00000617575.4:c.119-69_119-66del	ENSP00000482504.1:n.119-69_119-66del
ENST00000621098.1:c.119-69_119-66del	ENSP00000479962.1:n.119-69_119-66del
ENST00000621736.4:c.-146-69_-146-66del	ENSP00000479254.1:n.-146-69_-146-66del
NM_014249.3:c.119-69_119-66del	NP_055064.1:n.119-69_119-66del
NM_016346.3:c.119-69_119-66del	NP_057430.1:n.119-69_119-66del
XM_011521146.1:c.-146-69_-146-66del	XP_011519448.1:n.-146-69_-146-66del
NM_014249.4:c.119-69_119-66del MANE Select	NP_055064.1:n.119-69_119-66del
NM_016346.4:c.119-69_119-66del	NP_057430.1:n.119-69_119-66del