Canonical Allele Identifier: CA2804685686

Gene: NR2E3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811534_71811538del , CM000677.2:g.71811534_71811538del	GRCh38
NC_000015.9:g.72103874_72103878del , CM000677.1:g.72103874_72103878del	GRCh37
NC_000015.8:g.69890928_69890932del	NCBI36
NG_009113.2:g.5980_5984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.170_174del MANE Select	ENSP00000482504.1:p.Lys57IlefsTer?
ENST00000617575.4:c.170_174del	ENSP00000482504.1:p.Lys57IlefsTer?
ENST00000621098.1:c.170_174del	ENSP00000479962.1:p.Lys57IlefsTer?
ENST00000621736.4:c.-95_-91del	ENSP00000479254.1:n.-95_-91del
NM_014249.3:c.170_174del	NP_055064.1:p.Lys57IlefsTer?
NM_016346.3:c.170_174del	NP_057430.1:p.Lys57IlefsTer?
XM_011521146.1:c.-95_-91del	XP_011519448.1:n.-95_-91del
NM_014249.4:c.170_174del MANE Select	NP_055064.1:p.Lys57IlefsTer?
NM_016346.4:c.170_174del	NP_057430.1:p.Lys57IlefsTer?