Canonical Allele Identifier: CA149751
Gene: EIF2AK4 HGNC NCBI
gnomAD v2:
15:40259917 GT / G
gnomAD v3:
15:39967716 GT / G
gnomAD v4:
chr15-39967716-GT-G
Joint Max Group AF 0.00005298 (NFE)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.0000516 (NFE)
ClinVar RCV:
RCV000083306
ClinVar Variation:
97064
dbSNP:
587777102
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39967718del , CM000677.2:g.39967718del GRCh38
NC_000015.9:g.40259919del , CM000677.1:g.40259919del GRCh37
NC_000015.8:g.38047211del NCBI36
NG_034053.1:g.38595del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263791.10:c.1392del MANE Select ENSP00000263791.5:p.Arg465ValfsTer?
ENST00000263791.9:c.1392del ENSP00000263791.5:p.Arg465ValfsTer?
ENST00000559624.5:c.1392del ENSP00000453148.1:p.Arg465ValfsTer?
ENST00000560855.5:c.808del
NM_001013703.3:c.1392del NP_001013725.2:p.Arg465ValfsTer?
XM_005254392.1:c.1392del XP_005254449.1:p.Arg465ValfsTer?
XM_011521599.1:c.1392del XP_011519901.1:p.Arg465ValfsTer?
XM_011521600.1:c.1392del XP_011519902.1:p.Arg465ValfsTer?
XM_005254392.3:c.1392del XP_005254449.1:p.Arg465ValfsTer?
XM_011521599.2:c.1392del XP_011519901.1:p.Arg465ValfsTer?
XM_011521600.3:c.1392del XP_011519902.1:p.Arg465ValfsTer?
XM_017022219.2:c.1392del XP_016877708.1:p.Arg465ValfsTer?
NM_001013703.4:c.1392del MANE Select NP_001013725.2:p.Arg465ValfsTer?
Search 100 bp 5'
Search 100 bp 3'