Canonical Allele Identifier: CA968938744

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs2034721492
• gnomAD v3: 15-39977758-TTTA-T
• gnomAD v4: 15-39977758-TTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39977760_39977762del , CM000677.2:g.39977760_39977762del	GRCh38
NC_000015.9:g.40269961_40269963del , CM000677.1:g.40269961_40269963del	GRCh37
NC_000015.8:g.38057253_38057255del	NCBI36
NG_034053.1:g.48637_48639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.2250-318_2250-316del MANE Select	ENSP00000263791.5:n.2250-318_2250-316del
ENST00000263791.9:c.2250-318_2250-316del	ENSP00000263791.5:n.2250-318_2250-316del
ENST00000560855.5:c.1666-318_1666-316del
ENST00000624709.1:n.782_784del
NM_001013703.3:c.2250-318_2250-316del	NP_001013725.2:n.2250-318_2250-316del
XM_005254392.1:c.2250-318_2250-316del	XP_005254449.1:n.2250-318_2250-316del
XM_011521599.1:c.2250-318_2250-316del	XP_011519901.1:n.2250-318_2250-316del
XM_011521600.1:c.2250-318_2250-316del	XP_011519902.1:n.2250-318_2250-316del
XM_005254392.3:c.2250-318_2250-316del	XP_005254449.1:n.2250-318_2250-316del
XM_011521599.2:c.2250-318_2250-316del	XP_011519901.1:n.2250-318_2250-316del
XM_011521600.3:c.2250-318_2250-316del	XP_011519902.1:n.2250-318_2250-316del
XM_017022219.2:c.2250-318_2250-316del	XP_016877708.1:n.2250-318_2250-316del
NM_001013703.4:c.2250-318_2250-316del MANE Select	NP_001013725.2:n.2250-318_2250-316del