Canonical Allele Identifier: CA2660011042

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575560-CAACAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575566_88575570del , CM000664.2:g.88575566_88575570del	GRCh38
NC_000002.11:g.88875084_88875088del , CM000664.1:g.88875084_88875088del	GRCh37
NC_000002.10:g.88656199_88656203del	NCBI36
NG_016424.1:g.57012_57016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-119_1865-115del
ENST00000682276.1:n.1482-119_1482-115del
ENST00000682892.1:c.1584-119_1584-115del	ENSP00000507214.1:n.1584-119_1584-115del
ENST00000682952.1:n.1676-119_1676-115del
ENST00000684455.1:c.1250-119_1250-115del
ENST00000684642.1:c.1434-119_1434-115del	ENSP00000507355.1:n.1434-119_1434-115del
ENST00000684740.1:n.2215-119_2215-115del
ENST00000303236.9:c.2037-119_2037-115del MANE Select	ENSP00000307235.3:n.2037-119_2037-115del
ENST00000652099.1:c.2231-119_2231-115del
ENST00000652736.1:n.1913-119_1913-115del
ENST00000303236.7:c.2037-119_2037-115del	ENSP00000307235.3:n.2037-119_2037-115del
ENST00000415570.1:c.1674-119_1674-115del	ENSP00000412076.1:n.1674-119_1674-115del
ENST00000419748.5:c.1584-119_1584-115del	ENSP00000408325.1:n.1584-119_1584-115del
ENST00000478003.1:n.603-119_603-115del
NM_001313915.1:c.1584-119_1584-115del	NP_001300844.1:n.1584-119_1584-115del
NM_004836.5:c.2037-119_2037-115del	NP_004827.4:n.2037-119_2037-115del
NM_004836.6:c.2037-119_2037-115del	NP_004827.4:n.2037-119_2037-115del
NR_110236.1:n.1703_1707del
XM_005264649.3:c.1353-119_1353-115del	XP_005264706.1:n.1353-119_1353-115del
XR_939749.1:n.2316-119_2316-115del
XM_017005376.2:c.1353-119_1353-115del	XP_016860865.1:n.1353-119_1353-115del
NM_004836.7:c.2037-119_2037-115del MANE Select	NP_004827.4:n.2037-119_2037-115del
NM_001313915.2:c.1584-119_1584-115del	NP_001300844.1:n.1584-119_1584-115del