Canonical Allele Identifier: CA617218453

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs1408687429
• gnomAD v2: 15-40270336-AAGTC-A
• gnomAD v4: 15-39978135-AAGTC-A
• MyVariant Identifiers: chr15:g.40270337_40270340del (hg19) ; chr15:g.39978136_39978139del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39978138_39978141del , CM000677.2:g.39978138_39978141del	GRCh38
NC_000015.9:g.40270339_40270342del , CM000677.1:g.40270339_40270342del	GRCh37
NC_000015.8:g.38057631_38057634del	NCBI36
NG_034053.1:g.49015_49018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.2310_2313del MANE Select	ENSP00000263791.5:p.Ser770ArgfsTer20
ENST00000263791.9:c.2310_2313del	ENSP00000263791.5:p.Ser770ArgfsTer20
ENST00000560855.5:c.1726_1729del
ENST00000624709.1:n.1160_1163del
NM_001013703.3:c.2310_2313del	NP_001013725.2:p.Ser770ArgfsTer20
XM_005254392.1:c.2310_2313del	XP_005254449.1:p.Ser770ArgfsTer20
XM_011521599.1:c.2310_2313del	XP_011519901.1:p.Ser770ArgfsTer20
XM_011521600.1:c.2310_2313del	XP_011519902.1:p.Ser770ArgfsTer20
XM_005254392.3:c.2310_2313del	XP_005254449.1:p.Ser770ArgfsTer20
XM_011521599.2:c.2310_2313del	XP_011519901.1:p.Ser770ArgfsTer20
XM_011521600.3:c.2310_2313del	XP_011519902.1:p.Ser770ArgfsTer20
XM_017022219.2:c.2310_2313del	XP_016877708.1:p.Ser770ArgfsTer20
NM_001013703.4:c.2310_2313del MANE Select	NP_001013725.2:p.Ser770ArgfsTer20