Canonical Allele Identifier: CA2629291618

Gene: NR2E3

Linked Data

• gnomAD v4: 15-71811694-CAAAAATGTCCAAGCCCATGGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811695_71811716del , CM000677.2:g.71811695_71811716del	GRCh38
NC_000015.9:g.72104035_72104056del , CM000677.1:g.72104035_72104056del	GRCh37
NC_000015.8:g.69891089_69891110del	NCBI36
NG_009113.2:g.6141_6162del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.246-71_246-50del MANE Select	ENSP00000482504.1:n.246-71_246-50del
ENST00000617575.4:c.246-71_246-50del	ENSP00000482504.1:n.246-71_246-50del
ENST00000621098.1:c.246-71_246-50del	ENSP00000479962.1:n.246-71_246-50del
ENST00000621736.4:c.-19-71_-19-50del	ENSP00000479254.1:n.-19-71_-19-50del
NM_014249.3:c.246-71_246-50del	NP_055064.1:n.246-71_246-50del
NM_016346.3:c.246-71_246-50del	NP_057430.1:n.246-71_246-50del
XM_011521146.1:c.-19-71_-19-50del	XP_011519448.1:n.-19-71_-19-50del
NM_014249.4:c.246-71_246-50del MANE Select	NP_055064.1:n.246-71_246-50del
NM_016346.4:c.246-71_246-50del	NP_057430.1:n.246-71_246-50del