Canonical Allele Identifier: CA971286691

Gene: NR2E3

Linked Data

• dbSNP Id: rs2054183518
• gnomAD v3: 15-71811765-G-GGTGCCAGGTGGGGGCAGGGAT
• gnomAD v4: 15-71811765-G-GGTGCCAGGTGGGGGCAGGGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811771_71811791dup , CM000677.2:g.71811771_71811791dup	GRCh38
NC_000015.9:g.72104111_72104131dup , CM000677.1:g.72104111_72104131dup	GRCh37
NC_000015.8:g.69891165_69891185dup	NCBI36
NG_009113.2:g.6217_6237dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.251_271dup MANE Select	ENSP00000482504.1:p.Cys90_Pro91insGlnValGlyAlaGlyMetCys
ENST00000617575.4:c.251_271dup	ENSP00000482504.1:p.Cys90_Pro91insGlnValGlyAlaGlyMetCys
ENST00000621098.1:c.251_271dup	ENSP00000479962.1:p.Cys90_Pro91insGlnValGlyAlaGlyMetCys
ENST00000621736.4:c.-14_7dup	ENSP00000479254.1:p.Cys2_Pro3insGlnValGlyAlaGlyMetCys
NM_014249.3:c.251_271dup	NP_055064.1:p.Cys90_Pro91insGlnValGlyAlaGlyMetCys
NM_016346.3:c.251_271dup	NP_057430.1:p.Cys90_Pro91insGlnValGlyAlaGlyMetCys
XM_011521146.1:c.-14_7dup	XP_011519448.1:p.Cys2_Pro3insGlnValGlyAlaGlyMetCys
NM_014249.4:c.251_271dup MANE Select	NP_055064.1:p.Cys90_Pro91insGlnValGlyAlaGlyMetCys
NM_016346.4:c.251_271dup	NP_057430.1:p.Cys90_Pro91insGlnValGlyAlaGlyMetCys