Canonical Allele Identifier: CA2660011031

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575124-GTTCAAAGGAGTGCCCCTCAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575125_88575144del , CM000664.2:g.88575125_88575144del	GRCh38
NC_000002.11:g.88874643_88874662del , CM000664.1:g.88874643_88874662del	GRCh37
NC_000002.10:g.88655758_88655777del	NCBI36
NG_016424.1:g.57433_57452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2167_2186del
ENST00000682276.1:n.1784_1803del
ENST00000682892.1:c.1886_1905del	ENSP00000507214.1:p.Asp629AlafsTer5
ENST00000682952.1:n.1978_1997del
ENST00000684455.1:c.1552_1571del
ENST00000684642.1:c.1736_1755del	ENSP00000507355.1:p.Asp579AlafsTer5
ENST00000684740.1:n.2517_2536del
ENST00000303236.9:c.2339_2358del MANE Select	ENSP00000307235.3:p.Asp780AlafsTer5
ENST00000652099.1:c.2533_2552del
ENST00000652736.1:n.2215_2234del
ENST00000303236.7:c.2339_2358del	ENSP00000307235.3:p.Asp780AlafsTer5
ENST00000415570.1:c.1976_1995del	ENSP00000412076.1:p.Asp659AlafsTer5
ENST00000419748.5:c.1886_1905del	ENSP00000408325.1:p.Asp629AlafsTer5
ENST00000470706.1:n.49-67_49-48del
NM_001313915.1:c.1886_1905del	NP_001300844.1:p.Asp629AlafsTer5
NM_004836.5:c.2339_2358del	NP_004827.4:p.Asp780AlafsTer5
NM_004836.6:c.2339_2358del	NP_004827.4:p.Asp780AlafsTer5
NR_110236.1:n.1262_1281del
XM_005264649.3:c.1655_1674del	XP_005264706.1:p.Asp552AlafsTer5
XM_017005376.2:c.1655_1674del	XP_016860865.1:p.Asp552AlafsTer5
NM_004836.7:c.2339_2358del MANE Select	NP_004827.4:p.Asp780AlafsTer5
NM_001313915.2:c.1886_1905del	NP_001300844.1:p.Asp629AlafsTer5