Canonical Allele Identifier: CA690028218

Gene: NFE2

Linked Data

• dbSNP Id: rs1327517995
• gnomAD v3: 12-54293043-G-GTTGA
• gnomAD v4: 12-54293043-G-GTTGA
• MyVariant Identifiers: chr12:g.54686827_54686828insTTGA (hg19) ; chr12:g.54293043_54293044insTTGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54293044_54293047dup , CM000674.2:g.54293044_54293047dup	GRCh38
NC_000012.11:g.54686828_54686831dup , CM000674.1:g.54686828_54686831dup	GRCh37
NC_000012.10:g.52973095_52973098dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435572.7:c.449_452dup MANE Select	ENSP00000397185.2:p.Tyr152GlnfsTer3
ENST00000312156.8:c.449_452dup	ENSP00000312436.4:p.Tyr152GlnfsTer3
ENST00000435572.6:c.449_452dup	ENSP00000397185.2:p.Tyr152GlnfsTer3
ENST00000540264.2:c.449_452dup	ENSP00000439120.2:p.Tyr152GlnfsTer3
ENST00000553070.5:c.449_452dup	ENSP00000447558.1:p.Tyr152GlnfsTer3
ENST00000553198.1:c.449_452dup	ENSP00000446929.1:p.Tyr152GlnfsTer3
NM_001136023.2:c.449_452dup	NP_001129495.1:p.Tyr152GlnfsTer3
NM_001261461.1:c.449_452dup	NP_001248390.1:p.Tyr152GlnfsTer3
NM_006163.2:c.449_452dup	NP_006154.1:p.Tyr152GlnfsTer3
XM_005268906.3:c.449_452dup	XP_005268963.1:p.Tyr152GlnfsTer3
XM_011538397.1:c.416_419dup	XP_011536699.1:p.Tyr141GlnfsTer3
XM_005268906.4:c.449_452dup	XP_005268963.1:p.Tyr152GlnfsTer3
NM_001136023.3:c.449_452dup MANE Select	NP_001129495.1:p.Tyr152GlnfsTer3
NM_001261461.2:c.449_452dup	NP_001248390.1:p.Tyr152GlnfsTer3
NM_006163.3:c.449_452dup	NP_006154.1:p.Tyr152GlnfsTer3
NM_001400365.1:c.449_452dup	NP_001387294.1:p.Tyr152GlnfsTer3
NM_001400372.1:c.146_149dup	NP_001387301.1:p.Tyr51GlnfsTer3
NM_001400373.1:c.146_149dup	NP_001387302.1:p.Tyr51GlnfsTer3