Canonical Allele Identifier: CA2629291548

Gene: NR2E3

Linked Data

• gnomAD v4: 15-71811503-TGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811506_71811508del , CM000677.2:g.71811506_71811508del	GRCh38
NC_000015.9:g.72103846_72103848del , CM000677.1:g.72103846_72103848del	GRCh37
NC_000015.8:g.69890900_69890902del	NCBI36
NG_009113.2:g.5952_5954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.142_144del MANE Select	ENSP00000482504.1:p.Arg48del
ENST00000617575.4:c.142_144del	ENSP00000482504.1:p.Arg48del
ENST00000621098.1:c.142_144del	ENSP00000479962.1:p.Arg48del
ENST00000621736.4:c.-123_-121del	ENSP00000479254.1:n.-123_-121del
NM_014249.3:c.142_144del	NP_055064.1:p.Arg48del
NM_016346.3:c.142_144del	NP_057430.1:p.Arg48del
XM_011521146.1:c.-123_-121del	XP_011519448.1:n.-123_-121del
NM_014249.4:c.142_144del MANE Select	NP_055064.1:p.Arg48del
NM_016346.4:c.142_144del	NP_057430.1:p.Arg48del