Canonical Allele Identifier: CA2660011027

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575095-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575096del , CM000664.2:g.88575096del	GRCh38
NC_000002.11:g.88874614del , CM000664.1:g.88874614del	GRCh37
NC_000002.10:g.88655729del	NCBI36
NG_016424.1:g.57481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2215del
ENST00000682276.1:n.1832del
ENST00000682892.1:c.1934del	ENSP00000507214.1:p.Val645GlufsTer11
ENST00000682952.1:n.2026del
ENST00000684455.1:c.1600del
ENST00000684642.1:c.1784del	ENSP00000507355.1:p.Val595GlufsTer11
ENST00000684740.1:n.2565del
ENST00000303236.9:c.2387del MANE Select	ENSP00000307235.3:p.Val796GlufsTer11
ENST00000652099.1:c.2581del
ENST00000652736.1:n.2263del
ENST00000303236.7:c.2387del	ENSP00000307235.3:p.Val796GlufsTer11
ENST00000415570.1:c.2024del	ENSP00000412076.1:p.Val675GlufsTer11
ENST00000419748.5:c.1934del	ENSP00000408325.1:p.Val645GlufsTer11
ENST00000470706.1:n.49-19del
NM_001313915.1:c.1934del	NP_001300844.1:p.Val645GlufsTer11
NM_004836.5:c.2387del	NP_004827.4:p.Val796GlufsTer11
NM_004836.6:c.2387del	NP_004827.4:p.Val796GlufsTer11
NR_110236.1:n.1233del
XM_005264649.3:c.1703del	XP_005264706.1:p.Val568GlufsTer11
XM_017005376.2:c.1703del	XP_016860865.1:p.Val568GlufsTer11
NM_004836.7:c.2387del MANE Select	NP_004827.4:p.Val796GlufsTer11
NM_001313915.2:c.1934del	NP_001300844.1:p.Val645GlufsTer11