Canonical Allele Identifier: CA2627755710

Gene: EIF2AK4

Linked Data

• gnomAD v4: 15-40016759-AGTTAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016763_40016768del , CM000677.2:g.40016763_40016768del	GRCh38
NC_000015.9:g.40308964_40308969del , CM000677.1:g.40308964_40308969del	GRCh37
NC_000015.8:g.38096256_38096261del	NCBI36
NG_034053.1:g.87640_87645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3930+91_3930+96del MANE Select	ENSP00000263791.5:n.3930+91_3930+96del
ENST00000263791.9:c.3930+91_3930+96del	ENSP00000263791.5:n.3930+91_3930+96del
ENST00000558557.1:n.923-345_923-340del
ENST00000558629.5:n.2847+91_2847+96del
ENST00000560855.5:c.3262+91_3262+96del
NM_001013703.3:c.3930+91_3930+96del	NP_001013725.2:n.3930+91_3930+96del
XM_005254392.1:c.3930+91_3930+96del	XP_005254449.1:n.3930+91_3930+96del
XM_011521599.1:c.3930+91_3930+96del	XP_011519901.1:n.3930+91_3930+96del
XM_011521600.1:c.3760-345_3760-340del	XP_011519902.1:n.3760-345_3760-340del
XM_005254392.3:c.3930+91_3930+96del	XP_005254449.1:n.3930+91_3930+96del
XM_011521599.2:c.3930+91_3930+96del	XP_011519901.1:n.3930+91_3930+96del
XM_011521600.3:c.3760-345_3760-340del	XP_011519902.1:n.3760-345_3760-340del
XM_017022219.2:c.3760-345_3760-340del	XP_016877708.1:n.3760-345_3760-340del
NM_001013703.4:c.3930+91_3930+96del MANE Select	NP_001013725.2:n.3930+91_3930+96del