Canonical Allele Identifier: CA2171566105

Gene: EIF2AK4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39977868_39977870delinsCTT , CM000677.2:g.39977868_39977870delinsCTT	GRCh38
NC_000015.9:g.40270069_40270071delinsCTT , CM000677.1:g.40270069_40270071delinsCTT	GRCh37
NC_000015.8:g.38057361_38057363delinsCTT	NCBI36
NG_034053.1:g.48745_48747delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.2250-210_2250-208delinsCTT MANE Select	ENSP00000263791.5:n.2250-210_2250-208delinsCTT
ENST00000263791.9:c.2250-210_2250-208delinsCTT	ENSP00000263791.5:n.2250-210_2250-208delinsCTT
ENST00000560855.5:c.1666-210_1666-208delinsCTT
ENST00000624709.1:n.890_892delinsCTT
NM_001013703.3:c.2250-210_2250-208delinsCTT	NP_001013725.2:n.2250-210_2250-208delinsCTT
XM_005254392.1:c.2250-210_2250-208delinsCTT	XP_005254449.1:n.2250-210_2250-208delinsCTT
XM_011521599.1:c.2250-210_2250-208delinsCTT	XP_011519901.1:n.2250-210_2250-208delinsCTT
XM_011521600.1:c.2250-210_2250-208delinsCTT	XP_011519902.1:n.2250-210_2250-208delinsCTT
XM_005254392.3:c.2250-210_2250-208delinsCTT	XP_005254449.1:n.2250-210_2250-208delinsCTT
XM_011521599.2:c.2250-210_2250-208delinsCTT	XP_011519901.1:n.2250-210_2250-208delinsCTT
XM_011521600.3:c.2250-210_2250-208delinsCTT	XP_011519902.1:n.2250-210_2250-208delinsCTT
XM_017022219.2:c.2250-210_2250-208delinsCTT	XP_016877708.1:n.2250-210_2250-208delinsCTT
NM_001013703.4:c.2250-210_2250-208delinsCTT MANE Select	NP_001013725.2:n.2250-210_2250-208delinsCTT