Canonical Allele Identifier: CA2629291813

Gene: NR2E3

Linked Data

• gnomAD v4: 15-71811806-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811807del , CM000677.2:g.71811807del	GRCh38
NC_000015.9:g.72104147del , CM000677.1:g.72104147del	GRCh37
NC_000015.8:g.69891201del	NCBI36
NG_009113.2:g.6253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.287del MANE Select	ENSP00000482504.1:p.His96ProfsTer10
ENST00000617575.4:c.287del	ENSP00000482504.1:p.His96ProfsTer10
ENST00000621098.1:c.287del	ENSP00000479962.1:p.His96ProfsTer10
ENST00000621736.4:c.23del	ENSP00000479254.1:p.His8ProfsTer10
NM_014249.3:c.287del	NP_055064.1:p.His96ProfsTer10
NM_016346.3:c.287del	NP_057430.1:p.His96ProfsTer10
XM_011521146.1:c.23del	XP_011519448.1:p.His8ProfsTer10
NM_014249.4:c.287del MANE Select	NP_055064.1:p.His96ProfsTer10
NM_016346.4:c.287del	NP_057430.1:p.His96ProfsTer10