Canonical Allele Identifier: CA2575675857

Gene: EIF2AK4

Linked Data

• gnomAD v4: 15-40016766-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016769_40016770del , CM000677.2:g.40016769_40016770del	GRCh38
NC_000015.9:g.40308970_40308971del , CM000677.1:g.40308970_40308971del	GRCh37
NC_000015.8:g.38096262_38096263del	NCBI36
NG_034053.1:g.87646_87647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3930+97_3930+98del MANE Select	ENSP00000263791.5:n.3930+97_3930+98del
ENST00000263791.9:c.3930+97_3930+98del	ENSP00000263791.5:n.3930+97_3930+98del
ENST00000558557.1:n.923-339_923-338del
ENST00000558629.5:n.2847+97_2847+98del
ENST00000560855.5:c.3262+97_3262+98del
NM_001013703.3:c.3930+97_3930+98del	NP_001013725.2:n.3930+97_3930+98del
XM_005254392.1:c.3930+97_3930+98del	XP_005254449.1:n.3930+97_3930+98del
XM_011521599.1:c.3930+97_3930+98del	XP_011519901.1:n.3930+97_3930+98del
XM_011521600.1:c.3760-339_3760-338del	XP_011519902.1:n.3760-339_3760-338del
XM_005254392.3:c.3930+97_3930+98del	XP_005254449.1:n.3930+97_3930+98del
XM_011521599.2:c.3930+97_3930+98del	XP_011519901.1:n.3930+97_3930+98del
XM_011521600.3:c.3760-339_3760-338del	XP_011519902.1:n.3760-339_3760-338del
XM_017022219.2:c.3760-339_3760-338del	XP_016877708.1:n.3760-339_3760-338del
NM_001013703.4:c.3930+97_3930+98del MANE Select	NP_001013725.2:n.3930+97_3930+98del