Canonical Allele Identifier: CA2619126699

Gene: NFE2

Linked Data

• gnomAD v4: 12-54293250-AGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54293256_54293258del , CM000674.2:g.54293256_54293258del	GRCh38
NC_000012.11:g.54687040_54687042del , CM000674.1:g.54687040_54687042del	GRCh37
NC_000012.10:g.52973307_52973309del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435572.7:c.243_245del MANE Select	ENSP00000397185.2:p.Pro82del
ENST00000312156.8:c.243_245del	ENSP00000312436.4:p.Pro82del
ENST00000435572.6:c.243_245del	ENSP00000397185.2:p.Pro82del
ENST00000540264.2:c.243_245del	ENSP00000439120.2:p.Pro82del
ENST00000553070.5:c.243_245del	ENSP00000447558.1:p.Pro82del
ENST00000553198.1:c.243_245del	ENSP00000446929.1:p.Pro82del
NM_001136023.2:c.243_245del	NP_001129495.1:p.Pro82del
NM_001261461.1:c.243_245del	NP_001248390.1:p.Pro82del
NM_006163.2:c.243_245del	NP_006154.1:p.Pro82del
XM_005268906.3:c.243_245del	XP_005268963.1:p.Pro82del
XM_011538397.1:c.210_212del	XP_011536699.1:p.Pro71del
XM_005268906.4:c.243_245del	XP_005268963.1:p.Pro82del
NM_001136023.3:c.243_245del MANE Select	NP_001129495.1:p.Pro82del
NM_001261461.2:c.243_245del	NP_001248390.1:p.Pro82del
NM_006163.3:c.243_245del	NP_006154.1:p.Pro82del
NM_001400365.1:c.243_245del	NP_001387294.1:p.Pro82del
NM_001400372.1:c.-61_-59del	NP_001387301.1:n.-61_-59del
NM_001400373.1:c.-61_-59del	NP_001387302.1:n.-61_-59del