Canonical Allele Identifier: CA7474464

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs760493291
• ExAC: 15:40308825 C / CCT
• gnomAD v2: 15-40308825-C-CCT
• gnomAD v4: 15-40016624-C-CCT
• MyVariant Identifiers: chr15:g.40308825_40308826insCT (hg19) ; chr15:g.40016624_40016625insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016625_40016626dup , CM000677.2:g.40016625_40016626dup	GRCh38
NC_000015.9:g.40308826_40308827dup , CM000677.1:g.40308826_40308827dup	GRCh37
NC_000015.8:g.38096118_38096119dup	NCBI36
NG_034053.1:g.87502_87503dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3883_3884dup MANE Select	ENSP00000263791.5:p.Glu1296Ter
ENST00000263791.9:c.3883_3884dup	ENSP00000263791.5:p.Glu1296Ter
ENST00000558557.1:n.923-483_923-482dup
ENST00000558629.5:n.2800_2801dup
ENST00000560855.5:c.3215_3216dup
NM_001013703.3:c.3883_3884dup	NP_001013725.2:p.Glu1296Ter
XM_005254392.1:c.3883_3884dup	XP_005254449.1:p.Glu1296Ter
XM_011521599.1:c.3883_3884dup	XP_011519901.1:p.Glu1296Ter
XM_011521600.1:c.3760-483_3760-482dup	XP_011519902.1:n.3760-483_3760-482dup
XM_005254392.3:c.3883_3884dup	XP_005254449.1:p.Glu1296Ter
XM_011521599.2:c.3883_3884dup	XP_011519901.1:p.Glu1296Ter
XM_011521600.3:c.3760-483_3760-482dup	XP_011519902.1:n.3760-483_3760-482dup
XM_017022219.2:c.3760-483_3760-482dup	XP_016877708.1:n.3760-483_3760-482dup
NM_001013703.4:c.3883_3884dup MANE Select	NP_001013725.2:p.Glu1296Ter