Canonical Allele Identifier: CA2575675847

Gene: EIF2AK4

Linked Data

• gnomAD v4: 15-40016564-AAATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016565_40016568del , CM000677.2:g.40016565_40016568del	GRCh38
NC_000015.9:g.40308766_40308769del , CM000677.1:g.40308766_40308769del	GRCh37
NC_000015.8:g.38096058_38096061del	NCBI36
NG_034053.1:g.87442_87445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3823_3826del MANE Select	ENSP00000263791.5:p.Asn1275HisfsTer2
ENST00000263791.9:c.3823_3826del	ENSP00000263791.5:p.Asn1275HisfsTer2
ENST00000558557.1:n.923-543_923-540del
ENST00000558629.5:n.2740_2743del
ENST00000560855.5:c.3155_3158del
NM_001013703.3:c.3823_3826del	NP_001013725.2:p.Asn1275HisfsTer2
XM_005254392.1:c.3823_3826del	XP_005254449.1:p.Asn1275HisfsTer2
XM_011521599.1:c.3823_3826del	XP_011519901.1:p.Asn1275HisfsTer2
XM_011521600.1:c.3760-543_3760-540del	XP_011519902.1:n.3760-543_3760-540del
XM_005254392.3:c.3823_3826del	XP_005254449.1:p.Asn1275HisfsTer2
XM_011521599.2:c.3823_3826del	XP_011519901.1:p.Asn1275HisfsTer2
XM_011521600.3:c.3760-543_3760-540del	XP_011519902.1:n.3760-543_3760-540del
XM_017022219.2:c.3760-543_3760-540del	XP_016877708.1:n.3760-543_3760-540del
NM_001013703.4:c.3823_3826del MANE Select	NP_001013725.2:p.Asn1275HisfsTer2