Canonical Allele Identifier: CA2660011043

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575565-AAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575570_88575572del , CM000664.2:g.88575570_88575572del	GRCh38
NC_000002.11:g.88875088_88875090del , CM000664.1:g.88875088_88875090del	GRCh37
NC_000002.10:g.88656203_88656205del	NCBI36
NG_016424.1:g.57009_57011del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-122_1865-120del
ENST00000682276.1:n.1482-122_1482-120del
ENST00000682892.1:c.1584-122_1584-120del	ENSP00000507214.1:n.1584-122_1584-120del
ENST00000682952.1:n.1676-122_1676-120del
ENST00000684455.1:c.1250-122_1250-120del
ENST00000684642.1:c.1434-122_1434-120del	ENSP00000507355.1:n.1434-122_1434-120del
ENST00000684740.1:n.2215-122_2215-120del
ENST00000303236.9:c.2037-122_2037-120del MANE Select	ENSP00000307235.3:n.2037-122_2037-120del
ENST00000652099.1:c.2231-122_2231-120del
ENST00000652736.1:n.1913-122_1913-120del
ENST00000303236.7:c.2037-122_2037-120del	ENSP00000307235.3:n.2037-122_2037-120del
ENST00000415570.1:c.1674-122_1674-120del	ENSP00000412076.1:n.1674-122_1674-120del
ENST00000419748.5:c.1584-122_1584-120del	ENSP00000408325.1:n.1584-122_1584-120del
ENST00000478003.1:n.603-122_603-120del
NM_001313915.1:c.1584-122_1584-120del	NP_001300844.1:n.1584-122_1584-120del
NM_004836.5:c.2037-122_2037-120del	NP_004827.4:n.2037-122_2037-120del
NM_004836.6:c.2037-122_2037-120del	NP_004827.4:n.2037-122_2037-120del
NR_110236.1:n.1707_1709del
XM_005264649.3:c.1353-122_1353-120del	XP_005264706.1:n.1353-122_1353-120del
XR_939749.1:n.2316-122_2316-120del
XM_017005376.2:c.1353-122_1353-120del	XP_016860865.1:n.1353-122_1353-120del
NM_004836.7:c.2037-122_2037-120del MANE Select	NP_004827.4:n.2037-122_2037-120del
NM_001313915.2:c.1584-122_1584-120del	NP_001300844.1:n.1584-122_1584-120del