Canonical Allele Identifier: CA2586969671

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575174-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575177_88575178del , CM000664.2:g.88575177_88575178del	GRCh38
NC_000002.11:g.88874695_88874696del , CM000664.1:g.88874695_88874696del	GRCh37
NC_000002.10:g.88655810_88655811del	NCBI36
NG_016424.1:g.57401_57402del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2135_2136del
ENST00000682276.1:n.1752_1753del
ENST00000682892.1:c.1854_1855del	ENSP00000507214.1:p.Cys618Ter
ENST00000682952.1:n.1946_1947del
ENST00000684455.1:c.1520_1521del
ENST00000684642.1:c.1704_1705del	ENSP00000507355.1:p.Cys568Ter
ENST00000684740.1:n.2485_2486del
ENST00000303236.9:c.2307_2308del MANE Select	ENSP00000307235.3:p.Cys769Ter
ENST00000652099.1:c.2501_2502del
ENST00000652736.1:n.2183_2184del
ENST00000303236.7:c.2307_2308del	ENSP00000307235.3:p.Cys769Ter
ENST00000415570.1:c.1944_1945del	ENSP00000412076.1:p.Cys648Ter
ENST00000419748.5:c.1854_1855del	ENSP00000408325.1:p.Cys618Ter
ENST00000470706.1:n.49-99_49-98del
NM_001313915.1:c.1854_1855del	NP_001300844.1:p.Cys618Ter
NM_004836.5:c.2307_2308del	NP_004827.4:p.Cys769Ter
NM_004836.6:c.2307_2308del	NP_004827.4:p.Cys769Ter
NR_110236.1:n.1314_1315del
XM_005264649.3:c.1623_1624del	XP_005264706.1:p.Cys541Ter
XM_017005376.2:c.1623_1624del	XP_016860865.1:p.Cys541Ter
NM_004836.7:c.2307_2308del MANE Select	NP_004827.4:p.Cys769Ter
NM_001313915.2:c.1854_1855del	NP_001300844.1:p.Cys618Ter