Canonical Allele Identifier: CA2627755679

Gene: EIF2AK4

Linked Data

• gnomAD v4: 15-40016680-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016682_40016683del , CM000677.2:g.40016682_40016683del	GRCh38
NC_000015.9:g.40308883_40308884del , CM000677.1:g.40308883_40308884del	GRCh37
NC_000015.8:g.38096175_38096176del	NCBI36
NG_034053.1:g.87559_87560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3930+10_3930+11del MANE Select	ENSP00000263791.5:n.3930+10_3930+11del
ENST00000263791.9:c.3930+10_3930+11del	ENSP00000263791.5:n.3930+10_3930+11del
ENST00000558557.1:n.923-426_923-425del
ENST00000558629.5:n.2847+10_2847+11del
ENST00000560855.5:c.3262+10_3262+11del
NM_001013703.3:c.3930+10_3930+11del	NP_001013725.2:n.3930+10_3930+11del
XM_005254392.1:c.3930+10_3930+11del	XP_005254449.1:n.3930+10_3930+11del
XM_011521599.1:c.3930+10_3930+11del	XP_011519901.1:n.3930+10_3930+11del
XM_011521600.1:c.3760-426_3760-425del	XP_011519902.1:n.3760-426_3760-425del
XM_005254392.3:c.3930+10_3930+11del	XP_005254449.1:n.3930+10_3930+11del
XM_011521599.2:c.3930+10_3930+11del	XP_011519901.1:n.3930+10_3930+11del
XM_011521600.3:c.3760-426_3760-425del	XP_011519902.1:n.3760-426_3760-425del
XM_017022219.2:c.3760-426_3760-425del	XP_016877708.1:n.3760-426_3760-425del
NM_001013703.4:c.3930+10_3930+11del MANE Select	NP_001013725.2:n.3930+10_3930+11del