Canonical Allele Identifier: CA2627755676

Gene: EIF2AK4

Linked Data

• gnomAD v4: 15-40016574-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016575del , CM000677.2:g.40016575del	GRCh38
NC_000015.9:g.40308776del , CM000677.1:g.40308776del	GRCh37
NC_000015.8:g.38096068del	NCBI36
NG_034053.1:g.87452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3833del MANE Select	ENSP00000263791.5:p.Ile1278LysfsTer11
ENST00000263791.9:c.3833del	ENSP00000263791.5:p.Ile1278LysfsTer11
ENST00000558557.1:n.923-533del
ENST00000558629.5:n.2750del
ENST00000560855.5:c.3165del
NM_001013703.3:c.3833del	NP_001013725.2:p.Ile1278LysfsTer11
XM_005254392.1:c.3833del	XP_005254449.1:p.Ile1278LysfsTer11
XM_011521599.1:c.3833del	XP_011519901.1:p.Ile1278LysfsTer11
XM_011521600.1:c.3760-533del	XP_011519902.1:n.3760-533del
XM_005254392.3:c.3833del	XP_005254449.1:p.Ile1278LysfsTer11
XM_011521599.2:c.3833del	XP_011519901.1:p.Ile1278LysfsTer11
XM_011521600.3:c.3760-533del	XP_011519902.1:n.3760-533del
XM_017022219.2:c.3760-533del	XP_016877708.1:n.3760-533del
NM_001013703.4:c.3833del MANE Select	NP_001013725.2:p.Ile1278LysfsTer11