Canonical Allele Identifier: CA2660011038

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575474-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575477_88575478del , CM000664.2:g.88575477_88575478del	GRCh38
NC_000002.11:g.88874995_88874996del , CM000664.1:g.88874995_88874996del	GRCh37
NC_000002.10:g.88656110_88656111del	NCBI36
NG_016424.1:g.57101_57102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-30_1865-29del
ENST00000682276.1:n.1482-30_1482-29del
ENST00000682892.1:c.1584-30_1584-29del	ENSP00000507214.1:n.1584-30_1584-29del
ENST00000682952.1:n.1676-30_1676-29del
ENST00000684455.1:c.1250-30_1250-29del
ENST00000684642.1:c.1434-30_1434-29del	ENSP00000507355.1:n.1434-30_1434-29del
ENST00000684740.1:n.2215-30_2215-29del
ENST00000303236.9:c.2037-30_2037-29del MANE Select	ENSP00000307235.3:n.2037-30_2037-29del
ENST00000652099.1:c.2231-30_2231-29del
ENST00000652736.1:n.1913-30_1913-29del
ENST00000303236.7:c.2037-30_2037-29del	ENSP00000307235.3:n.2037-30_2037-29del
ENST00000415570.1:c.1674-30_1674-29del	ENSP00000412076.1:n.1674-30_1674-29del
ENST00000419748.5:c.1584-30_1584-29del	ENSP00000408325.1:n.1584-30_1584-29del
ENST00000478003.1:n.603-30_603-29del
NM_001313915.1:c.1584-30_1584-29del	NP_001300844.1:n.1584-30_1584-29del
NM_004836.5:c.2037-30_2037-29del	NP_004827.4:n.2037-30_2037-29del
NM_004836.6:c.2037-30_2037-29del	NP_004827.4:n.2037-30_2037-29del
NR_110236.1:n.1614_1615del
XM_005264649.3:c.1353-30_1353-29del	XP_005264706.1:n.1353-30_1353-29del
XR_939749.1:n.2316-30_2316-29del
XM_017005376.2:c.1353-30_1353-29del	XP_016860865.1:n.1353-30_1353-29del
NM_004836.7:c.2037-30_2037-29del MANE Select	NP_004827.4:n.2037-30_2037-29del
NM_001313915.2:c.1584-30_1584-29del	NP_001300844.1:n.1584-30_1584-29del