Canonical Allele Identifier: CA2803844111

Gene: EIF2AK4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39977861_39977868del , CM000677.2:g.39977861_39977868del	GRCh38
NC_000015.9:g.40270062_40270069del , CM000677.1:g.40270062_40270069del	GRCh37
NC_000015.8:g.38057354_38057361del	NCBI36
NG_034053.1:g.48738_48745del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.2250-217_2250-210del MANE Select	ENSP00000263791.5:n.2250-217_2250-210del
ENST00000263791.9:c.2250-217_2250-210del	ENSP00000263791.5:n.2250-217_2250-210del
ENST00000560855.5:c.1666-217_1666-210del
ENST00000624709.1:n.883_890del
NM_001013703.3:c.2250-217_2250-210del	NP_001013725.2:n.2250-217_2250-210del
XM_005254392.1:c.2250-217_2250-210del	XP_005254449.1:n.2250-217_2250-210del
XM_011521599.1:c.2250-217_2250-210del	XP_011519901.1:n.2250-217_2250-210del
XM_011521600.1:c.2250-217_2250-210del	XP_011519902.1:n.2250-217_2250-210del
XM_005254392.3:c.2250-217_2250-210del	XP_005254449.1:n.2250-217_2250-210del
XM_011521599.2:c.2250-217_2250-210del	XP_011519901.1:n.2250-217_2250-210del
XM_011521600.3:c.2250-217_2250-210del	XP_011519902.1:n.2250-217_2250-210del
XM_017022219.2:c.2250-217_2250-210del	XP_016877708.1:n.2250-217_2250-210del
NM_001013703.4:c.2250-217_2250-210del MANE Select	NP_001013725.2:n.2250-217_2250-210del