Canonical Allele Identifier: CA2171566056

Gene: EIF2AK4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39977758_39977761delinsTTTA , CM000677.2:g.39977758_39977761delinsTTTA	GRCh38
NC_000015.9:g.40269959_40269962delinsTTTA , CM000677.1:g.40269959_40269962delinsTTTA	GRCh37
NC_000015.8:g.38057251_38057254delinsTTTA	NCBI36
NG_034053.1:g.48635_48638delinsTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.2250-320_2250-317delinsTTTA MANE Select	ENSP00000263791.5:n.2250-320_2250-317delinsTTTA
ENST00000263791.9:c.2250-320_2250-317delinsTTTA	ENSP00000263791.5:n.2250-320_2250-317delinsTTTA
ENST00000560855.5:c.1666-320_1666-317delinsTTTA
ENST00000624709.1:n.780_783delinsTTTA
NM_001013703.3:c.2250-320_2250-317delinsTTTA	NP_001013725.2:n.2250-320_2250-317delinsTTTA
XM_005254392.1:c.2250-320_2250-317delinsTTTA	XP_005254449.1:n.2250-320_2250-317delinsTTTA
XM_011521599.1:c.2250-320_2250-317delinsTTTA	XP_011519901.1:n.2250-320_2250-317delinsTTTA
XM_011521600.1:c.2250-320_2250-317delinsTTTA	XP_011519902.1:n.2250-320_2250-317delinsTTTA
XM_005254392.3:c.2250-320_2250-317delinsTTTA	XP_005254449.1:n.2250-320_2250-317delinsTTTA
XM_011521599.2:c.2250-320_2250-317delinsTTTA	XP_011519901.1:n.2250-320_2250-317delinsTTTA
XM_011521600.3:c.2250-320_2250-317delinsTTTA	XP_011519902.1:n.2250-320_2250-317delinsTTTA
XM_017022219.2:c.2250-320_2250-317delinsTTTA	XP_016877708.1:n.2250-320_2250-317delinsTTTA
NM_001013703.4:c.2250-320_2250-317delinsTTTA MANE Select	NP_001013725.2:n.2250-320_2250-317delinsTTTA