Canonical Allele Identifier: CA2627755702

Gene: EIF2AK4

Linked Data

• gnomAD v4: 15-40016743-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016744del , CM000677.2:g.40016744del	GRCh38
NC_000015.9:g.40308945del , CM000677.1:g.40308945del	GRCh37
NC_000015.8:g.38096237del	NCBI36
NG_034053.1:g.87621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3930+72del MANE Select	ENSP00000263791.5:n.3930+72del
ENST00000263791.9:c.3930+72del	ENSP00000263791.5:n.3930+72del
ENST00000558557.1:n.923-364del
ENST00000558629.5:n.2847+72del
ENST00000560855.5:c.3262+72del
NM_001013703.3:c.3930+72del	NP_001013725.2:n.3930+72del
XM_005254392.1:c.3930+72del	XP_005254449.1:n.3930+72del
XM_011521599.1:c.3930+72del	XP_011519901.1:n.3930+72del
XM_011521600.1:c.3760-364del	XP_011519902.1:n.3760-364del
XM_005254392.3:c.3930+72del	XP_005254449.1:n.3930+72del
XM_011521599.2:c.3930+72del	XP_011519901.1:n.3930+72del
XM_011521600.3:c.3760-364del	XP_011519902.1:n.3760-364del
XM_017022219.2:c.3760-364del	XP_016877708.1:n.3760-364del
NM_001013703.4:c.3930+72del MANE Select	NP_001013725.2:n.3930+72del