Canonical Allele Identifier: CA1268208241

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575448_88575449delinsTA , CM000664.2:g.88575448_88575449delinsTA	GRCh38
NC_000002.11:g.88874966_88874967delinsTA , CM000664.1:g.88874966_88874967delinsTA	GRCh37
NC_000002.10:g.88656081_88656082delinsTA	NCBI36
NG_016424.1:g.57128_57129delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-3_1865-2delinsTA
ENST00000682276.1:n.1482-3_1482-2delinsTA
ENST00000682892.1:c.1584-3_1584-2delinsTA	ENSP00000507214.1:n.1584-3_1584-2delinsTA
ENST00000682952.1:n.1676-3_1676-2delinsTA
ENST00000684455.1:c.1250-3_1250-2delinsTA
ENST00000684642.1:c.1434-3_1434-2delinsTA	ENSP00000507355.1:n.1434-3_1434-2delinsTA
ENST00000684740.1:n.2215-3_2215-2delinsTA
ENST00000303236.9:c.2037-3_2037-2delinsTA MANE Select	ENSP00000307235.3:n.2037-3_2037-2delinsTA
ENST00000652099.1:c.2231-3_2231-2delinsTA
ENST00000652736.1:n.1913-3_1913-2delinsTA
ENST00000303236.7:c.2037-3_2037-2delinsTA	ENSP00000307235.3:n.2037-3_2037-2delinsTA
ENST00000415570.1:c.1674-3_1674-2delinsTA	ENSP00000412076.1:n.1674-3_1674-2delinsTA
ENST00000419748.5:c.1584-3_1584-2delinsTA	ENSP00000408325.1:n.1584-3_1584-2delinsTA
ENST00000478003.1:n.603-3_603-2delinsTA
NM_001313915.1:c.1584-3_1584-2delinsTA	NP_001300844.1:n.1584-3_1584-2delinsTA
NM_004836.5:c.2037-3_2037-2delinsTA	NP_004827.4:n.2037-3_2037-2delinsTA
NM_004836.6:c.2037-3_2037-2delinsTA	NP_004827.4:n.2037-3_2037-2delinsTA
NR_110236.1:n.1585_1586delinsTA
XM_005264649.3:c.1353-3_1353-2delinsTA	XP_005264706.1:n.1353-3_1353-2delinsTA
XR_939749.1:n.2316-3_2316-2delinsTA
XM_017005376.2:c.1353-3_1353-2delinsTA	XP_016860865.1:n.1353-3_1353-2delinsTA
NM_004836.7:c.2037-3_2037-2delinsTA MANE Select	NP_004827.4:n.2037-3_2037-2delinsTA
NM_001313915.2:c.1584-3_1584-2delinsTA	NP_001300844.1:n.1584-3_1584-2delinsTA