Canonical Allele Identifier: CA2575675462

Gene: EIF2AK4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39978105_39978107del , CM000677.2:g.39978105_39978107del	GRCh38
NC_000015.9:g.40270306_40270308del , CM000677.1:g.40270306_40270308del	GRCh37
NC_000015.8:g.38057598_38057600del	NCBI36
NG_034053.1:g.48982_48984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.2277_2279del MANE Select	ENSP00000263791.5:p.Ile760del
ENST00000263791.9:c.2277_2279del	ENSP00000263791.5:p.Ile760del
ENST00000560855.5:c.1693_1695del
ENST00000624709.1:n.1127_1129del
NM_001013703.3:c.2277_2279del	NP_001013725.2:p.Ile760del
XM_005254392.1:c.2277_2279del	XP_005254449.1:p.Ile760del
XM_011521599.1:c.2277_2279del	XP_011519901.1:p.Ile760del
XM_011521600.1:c.2277_2279del	XP_011519902.1:p.Ile760del
XM_005254392.3:c.2277_2279del	XP_005254449.1:p.Ile760del
XM_011521599.2:c.2277_2279del	XP_011519901.1:p.Ile760del
XM_011521600.3:c.2277_2279del	XP_011519902.1:p.Ile760del
XM_017022219.2:c.2277_2279del	XP_016877708.1:p.Ile760del
NM_001013703.4:c.2277_2279del MANE Select	NP_001013725.2:p.Ile760del