Canonical Allele Identifier: CA645293889
Gene: EIF2AK4 HGNC NCBI

Linked Data

dbSNP Id: rs1085307439
gnomAD v4: 15-39943476-CTG-C
MyVariant Identifiers: chr15:g.40235680_40235681del (hg19) chr15:g.39943479_39943480del (hg38)
PubMed: PMID:24292273 PMID:26387786
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39943479_39943480del , CM000677.2:g.39943479_39943480del GRCh38
NC_000015.9:g.40235680_40235681del , CM000677.1:g.40235680_40235681del GRCh37
NC_000015.8:g.38022972_38022973del NCBI36
NG_034053.1:g.14356_14357del

Transcript Alleles

HGVS Amino-acid change
ENST00000263791.10:c.354_355del MANE Select ENSP00000263791.5:p.Cys118TrpfsTer7
ENST00000263791.9:c.354_355del ENSP00000263791.5:p.Cys118TrpfsTer7
ENST00000559624.5:c.354_355del ENSP00000453148.1:p.Cys118TrpfsTer7
ENST00000560648.1:c.354_355del ENSP00000453968.1:p.Cys118TrpfsTer?
NM_001013703.3:c.354_355del NP_001013725.2:p.Cys118TrpfsTer7
XM_005254392.1:c.354_355del XP_005254449.1:p.Cys118TrpfsTer7
XM_011521599.1:c.354_355del XP_011519901.1:p.Cys118TrpfsTer7
XM_011521600.1:c.354_355del XP_011519902.1:p.Cys118TrpfsTer7
XM_005254392.3:c.354_355del XP_005254449.1:p.Cys118TrpfsTer7
XM_011521599.2:c.354_355del XP_011519901.1:p.Cys118TrpfsTer7
XM_011521600.3:c.354_355del XP_011519902.1:p.Cys118TrpfsTer7
XM_017022219.2:c.354_355del XP_016877708.1:p.Cys118TrpfsTer7
NM_001013703.4:c.354_355del MANE Select NP_001013725.2:p.Cys118TrpfsTer7
Search 100 bp 5'
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