Canonical Allele Identifier: CA2575675846

Gene: EIF2AK4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016538_40016539dup , CM000677.2:g.40016538_40016539dup	GRCh38
NC_000015.9:g.40308739_40308740dup , CM000677.1:g.40308739_40308740dup	GRCh37
NC_000015.8:g.38096031_38096032dup	NCBI36
NG_034053.1:g.87415_87416dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3796_3797dup MANE Select	ENSP00000263791.5:p.Asp1266GlufsTer10
ENST00000263791.9:c.3796_3797dup	ENSP00000263791.5:p.Asp1266GlufsTer10
ENST00000558557.1:n.923-570_923-569dup
ENST00000558629.5:n.2713_2714dup
ENST00000560855.5:c.3128_3129dup
NM_001013703.3:c.3796_3797dup	NP_001013725.2:p.Asp1266GlufsTer10
XM_005254392.1:c.3796_3797dup	XP_005254449.1:p.Asp1266GlufsTer10
XM_011521599.1:c.3796_3797dup	XP_011519901.1:p.Asp1266GlufsTer10
XM_011521600.1:c.3760-570_3760-569dup	XP_011519902.1:n.3760-570_3760-569dup
XM_005254392.3:c.3796_3797dup	XP_005254449.1:p.Asp1266GlufsTer10
XM_011521599.2:c.3796_3797dup	XP_011519901.1:p.Asp1266GlufsTer10
XM_011521600.3:c.3760-570_3760-569dup	XP_011519902.1:n.3760-570_3760-569dup
XM_017022219.2:c.3760-570_3760-569dup	XP_016877708.1:n.3760-570_3760-569dup
NM_001013703.4:c.3796_3797dup MANE Select	NP_001013725.2:p.Asp1266GlufsTer10