Canonical Allele Identifier: CA2804685740

Gene: NR2E3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811797_71811799del , CM000677.2:g.71811797_71811799del	GRCh38
NC_000015.9:g.72104137_72104139del , CM000677.1:g.72104137_72104139del	GRCh37
NC_000015.8:g.69891191_69891193del	NCBI36
NG_009113.2:g.6243_6245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.277_279del MANE Select	ENSP00000482504.1:p.Asp93del
ENST00000617575.4:c.277_279del	ENSP00000482504.1:p.Asp93del
ENST00000621098.1:c.277_279del	ENSP00000479962.1:p.Asp93del
ENST00000621736.4:c.13_15del	ENSP00000479254.1:p.Asp5del
NM_014249.3:c.277_279del	NP_055064.1:p.Asp93del
NM_016346.3:c.277_279del	NP_057430.1:p.Asp93del
XM_011521146.1:c.13_15del	XP_011519448.1:p.Asp5del
NM_014249.4:c.277_279del MANE Select	NP_055064.1:p.Asp93del
NM_016346.4:c.277_279del	NP_057430.1:p.Asp93del