Canonical Allele Identifier: CA605137278

Gene: NFE2

Linked Data

• dbSNP Id: rs1399187500
• gnomAD v2: 12-54687254-TC-T
• gnomAD v3: 12-54293470-TC-T
• gnomAD v4: 12-54293470-TC-T
• MyVariant Identifiers: chr12:g.54687255del (hg19) ; chr12:g.54293471del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54293471del , CM000674.2:g.54293471del	GRCh38
NC_000012.11:g.54687255del , CM000674.1:g.54687255del	GRCh37
NC_000012.10:g.52973522del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435572.7:c.115-90del MANE Select	ENSP00000397185.2:n.115-90del
ENST00000312156.8:c.115-90del	ENSP00000312436.4:n.115-90del
ENST00000435572.6:c.115-90del	ENSP00000397185.2:n.115-90del
ENST00000540264.2:c.115-90del	ENSP00000439120.2:n.115-90del
ENST00000553070.5:c.115-90del	ENSP00000447558.1:n.115-90del
ENST00000553198.1:c.115-90del	ENSP00000446929.1:n.115-90del
NM_001136023.2:c.115-90del	NP_001129495.1:n.115-90del
NM_001261461.1:c.115-90del	NP_001248390.1:n.115-90del
NM_006163.2:c.115-90del	NP_006154.1:n.115-90del
XM_005268906.3:c.115-90del	XP_005268963.1:n.115-90del
XM_011538397.1:c.82-90del	XP_011536699.1:n.82-90del
XM_005268906.4:c.115-90del	XP_005268963.1:n.115-90del
NM_001136023.3:c.115-90del MANE Select	NP_001129495.1:n.115-90del
NM_001261461.2:c.115-90del	NP_001248390.1:n.115-90del
NM_006163.3:c.115-90del	NP_006154.1:n.115-90del
NM_001400365.1:c.115-90del	NP_001387294.1:n.115-90del
NM_001400372.1:c.-189-90del	NP_001387301.1:n.-189-90del
NM_001400373.1:c.-189-90del	NP_001387302.1:n.-189-90del