Canonical Allele Identifier: CA2186513568

Gene: NR2E3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811506_71811508delinsCGC , CM000677.2:g.71811506_71811508delinsCGC	GRCh38
NC_000015.9:g.72103846_72103848delinsCGC , CM000677.1:g.72103846_72103848delinsCGC	GRCh37
NC_000015.8:g.69890900_69890902delinsCGC	NCBI36
NG_009113.2:g.5952_5954delinsCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.142_144delinsCGC MANE Select	ENSP00000482504.1:p.Arg48=
ENST00000617575.4:c.142_144delinsCGC	ENSP00000482504.1:p.Arg48=
ENST00000621098.1:c.142_144delinsCGC	ENSP00000479962.1:p.Arg48=
ENST00000621736.4:c.-123_-121delinsCGC	ENSP00000479254.1:n.-123_-121delinsCGC
NM_014249.3:c.142_144delinsCGC	NP_055064.1:p.Arg48=
NM_016346.3:c.142_144delinsCGC	NP_057430.1:p.Arg48=
XM_011521146.1:c.-123_-121delinsCGC	XP_011519448.1:n.-123_-121delinsCGC
NM_014249.4:c.142_144delinsCGC MANE Select	NP_055064.1:p.Arg48=
NM_016346.4:c.142_144delinsCGC	NP_057430.1:p.Arg48=