Canonical Allele Identifier: CA2750855579

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575503_88575504insCTGC , CM000664.2:g.88575503_88575504insCTGC	GRCh38
NC_000002.11:g.88875021_88875022insCTGC , CM000664.1:g.88875021_88875022insCTGC	GRCh37
NC_000002.10:g.88656136_88656137insCTGC	NCBI36
NG_016424.1:g.57073_57074insGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-58_1865-57insGCAG
ENST00000682276.1:n.1482-58_1482-57insGCAG
ENST00000682892.1:c.1584-58_1584-57insGCAG	ENSP00000507214.1:n.1584-58_1584-57insGCAG
ENST00000682952.1:n.1676-58_1676-57insGCAG
ENST00000684455.1:c.1250-58_1250-57insGCAG
ENST00000684642.1:c.1434-58_1434-57insGCAG	ENSP00000507355.1:n.1434-58_1434-57insGCAG
ENST00000684740.1:n.2215-58_2215-57insGCAG
ENST00000303236.9:c.2037-58_2037-57insGCAG MANE Select	ENSP00000307235.3:n.2037-58_2037-57insGCAG
ENST00000652099.1:c.2231-58_2231-57insGCAG
ENST00000652736.1:n.1913-58_1913-57insGCAG
ENST00000303236.7:c.2037-58_2037-57insGCAG	ENSP00000307235.3:n.2037-58_2037-57insGCAG
ENST00000415570.1:c.1674-58_1674-57insGCAG	ENSP00000412076.1:n.1674-58_1674-57insGCAG
ENST00000419748.5:c.1584-58_1584-57insGCAG	ENSP00000408325.1:n.1584-58_1584-57insGCAG
ENST00000478003.1:n.603-58_603-57insGCAG
NM_001313915.1:c.1584-58_1584-57insGCAG	NP_001300844.1:n.1584-58_1584-57insGCAG
NM_004836.5:c.2037-58_2037-57insGCAG	NP_004827.4:n.2037-58_2037-57insGCAG
NM_004836.6:c.2037-58_2037-57insGCAG	NP_004827.4:n.2037-58_2037-57insGCAG
NR_110236.1:n.1640_1641insCTGC
XM_005264649.3:c.1353-58_1353-57insGCAG	XP_005264706.1:n.1353-58_1353-57insGCAG
XR_939749.1:n.2316-58_2316-57insGCAG
XM_017005376.2:c.1353-58_1353-57insGCAG	XP_016860865.1:n.1353-58_1353-57insGCAG
NM_004836.7:c.2037-58_2037-57insGCAG MANE Select	NP_004827.4:n.2037-58_2037-57insGCAG
NM_001313915.2:c.1584-58_1584-57insGCAG	NP_001300844.1:n.1584-58_1584-57insGCAG