Canonical Allele Identifier: CA2629291773

Gene: NR2E3

Linked Data

• gnomAD v4: 15-71811789-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811793del , CM000677.2:g.71811793del	GRCh38
NC_000015.9:g.72104133del , CM000677.1:g.72104133del	GRCh37
NC_000015.8:g.69891187del	NCBI36
NG_009113.2:g.6239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.273del MANE Select	ENSP00000482504.1:p.Val92TrpfsTer14
ENST00000617575.4:c.273del	ENSP00000482504.1:p.Val92TrpfsTer14
ENST00000621098.1:c.273del	ENSP00000479962.1:p.Val92TrpfsTer14
ENST00000621736.4:c.9del	ENSP00000479254.1:p.Val4TrpfsTer14
NM_014249.3:c.273del	NP_055064.1:p.Val92TrpfsTer14
NM_016346.3:c.273del	NP_057430.1:p.Val92TrpfsTer14
XM_011521146.1:c.9del	XP_011519448.1:p.Val4TrpfsTer14
NM_014249.4:c.273del MANE Select	NP_055064.1:p.Val92TrpfsTer14
NM_016346.4:c.273del	NP_057430.1:p.Val92TrpfsTer14