Canonical Allele Identifier: CA1268211552

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1674642021

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583335_88583352dup , CM000664.2:g.88583335_88583352dup	GRCh38
NC_000002.11:g.88882853_88882870dup , CM000664.1:g.88882853_88882870dup	GRCh37
NC_000002.10:g.88663968_88663985dup	NCBI36
NG_016424.1:g.49226_49243dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1208+79_1208+96dup
ENST00000682892.1:c.1310+79_1310+96dup	ENSP00000507214.1:n.1310+79_1310+96dup
ENST00000682952.1:n.1402+79_1402+96dup
ENST00000684455.1:c.976+79_976+96dup
ENST00000684642.1:c.1160+79_1160+96dup	ENSP00000507355.1:n.1160+79_1160+96dup
ENST00000303236.9:c.1763+79_1763+96dup MANE Select	ENSP00000307235.3:n.1763+79_1763+96dup
ENST00000652099.1:c.1957+79_1957+96dup
ENST00000652736.1:n.1639+79_1639+96dup
ENST00000303236.7:c.1763+79_1763+96dup	ENSP00000307235.3:n.1763+79_1763+96dup
ENST00000415570.1:c.1400+79_1400+96dup	ENSP00000412076.1:n.1400+79_1400+96dup
ENST00000419748.5:c.1310+79_1310+96dup	ENSP00000408325.1:n.1310+79_1310+96dup
NM_001313915.1:c.1310+79_1310+96dup	NP_001300844.1:n.1310+79_1310+96dup
NM_004836.5:c.1763+79_1763+96dup	NP_004827.4:n.1763+79_1763+96dup
NM_004836.6:c.1763+79_1763+96dup	NP_004827.4:n.1763+79_1763+96dup
XM_005264649.3:c.1079+79_1079+96dup	XP_005264706.1:n.1079+79_1079+96dup
XR_939749.1:n.1972+79_1972+96dup
XM_017005376.2:c.1079+79_1079+96dup	XP_016860865.1:n.1079+79_1079+96dup
NM_004836.7:c.1763+79_1763+96dup MANE Select	NP_004827.4:n.1763+79_1763+96dup
NM_001313915.2:c.1310+79_1310+96dup	NP_001300844.1:n.1310+79_1310+96dup