Canonical Allele Identifier: CA605245644

Gene: NFE2

Linked Data

• dbSNP Id: rs1422235674
• gnomAD v2: 12-54686933-AGCAG-A
• gnomAD v4: 12-54293149-AGCAG-A
• MyVariant Identifiers: chr12:g.54686934_54686937del (hg19) ; chr12:g.54293150_54293153del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54293152_54293155del , CM000674.2:g.54293152_54293155del	GRCh38
NC_000012.11:g.54686936_54686939del , CM000674.1:g.54686936_54686939del	GRCh37
NC_000012.10:g.52973203_52973206del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435572.7:c.343_346del MANE Select	ENSP00000397185.2:p.Leu115SerfsTer9
ENST00000312156.8:c.343_346del	ENSP00000312436.4:p.Leu115SerfsTer9
ENST00000435572.6:c.343_346del	ENSP00000397185.2:p.Leu115SerfsTer9
ENST00000540264.2:c.343_346del	ENSP00000439120.2:p.Leu115SerfsTer9
ENST00000553070.5:c.343_346del	ENSP00000447558.1:p.Leu115SerfsTer9
ENST00000553198.1:c.343_346del	ENSP00000446929.1:p.Leu115SerfsTer9
NM_001136023.2:c.343_346del	NP_001129495.1:p.Leu115SerfsTer9
NM_001261461.1:c.343_346del	NP_001248390.1:p.Leu115SerfsTer9
NM_006163.2:c.343_346del	NP_006154.1:p.Leu115SerfsTer9
XM_005268906.3:c.343_346del	XP_005268963.1:p.Leu115SerfsTer9
XM_011538397.1:c.310_313del	XP_011536699.1:p.Leu104SerfsTer9
XM_005268906.4:c.343_346del	XP_005268963.1:p.Leu115SerfsTer9
NM_001136023.3:c.343_346del MANE Select	NP_001129495.1:p.Leu115SerfsTer9
NM_001261461.2:c.343_346del	NP_001248390.1:p.Leu115SerfsTer9
NM_006163.3:c.343_346del	NP_006154.1:p.Leu115SerfsTer9
NM_001400365.1:c.343_346del	NP_001387294.1:p.Leu115SerfsTer9
NM_001400372.1:c.40_43del	NP_001387301.1:p.Leu14SerfsTer9
NM_001400373.1:c.40_43del	NP_001387302.1:p.Leu14SerfsTer9