Canonical Allele Identifier: CA2750855578

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575446_88575447insGGG , CM000664.2:g.88575446_88575447insGGG	GRCh38
NC_000002.11:g.88874964_88874965insGGG , CM000664.1:g.88874964_88874965insGGG	GRCh37
NC_000002.10:g.88656079_88656080insGGG	NCBI36
NG_016424.1:g.57131_57132insCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865_1866insCCC
ENST00000682276.1:n.1482_1483insCCC
ENST00000682892.1:c.1584_1585insCCC	ENSP00000507214.1:p.Ser528_Thr529insPro
ENST00000682952.1:n.1676_1677insCCC
ENST00000684455.1:c.1250_1251insCCC
ENST00000684642.1:c.1434_1435insCCC	ENSP00000507355.1:p.Ser478_Thr479insPro
ENST00000684740.1:n.2215_2216insCCC
ENST00000303236.9:c.2037_2038insCCC MANE Select	ENSP00000307235.3:p.Ser679_Thr680insPro
ENST00000652099.1:c.2231_2232insCCC
ENST00000652736.1:n.1913_1914insCCC
ENST00000303236.7:c.2037_2038insCCC	ENSP00000307235.3:p.Ser679_Thr680insPro
ENST00000415570.1:c.1674_1675insCCC	ENSP00000412076.1:p.Ser558_Thr559insPro
ENST00000419748.5:c.1584_1585insCCC	ENSP00000408325.1:p.Ser528_Thr529insPro
ENST00000478003.1:n.603_604insCCC
NM_001313915.1:c.1584_1585insCCC	NP_001300844.1:p.Ser528_Thr529insPro
NM_004836.5:c.2037_2038insCCC	NP_004827.4:p.Ser679_Thr680insPro
NM_004836.6:c.2037_2038insCCC	NP_004827.4:p.Ser679_Thr680insPro
NR_110236.1:n.1583_1584insGGG
XM_005264649.3:c.1353_1354insCCC	XP_005264706.1:p.Ser451_Thr452insPro
XR_939749.1:n.2316_2317insCCC
XM_017005376.2:c.1353_1354insCCC	XP_016860865.1:p.Ser451_Thr452insPro
NM_004836.7:c.2037_2038insCCC MANE Select	NP_004827.4:p.Ser679_Thr680insPro
NM_001313915.2:c.1584_1585insCCC	NP_001300844.1:p.Ser528_Thr529insPro