Canonical Allele Identifier: CA1268208284
Gene: EIF2AK3 HGNC NCBI

Linked Data

dbSNP Id: rs1674437023

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575571del , CM000664.2:g.88575571del GRCh38
NC_000002.11:g.88875089del , CM000664.1:g.88875089del GRCh37
NC_000002.10:g.88656204del NCBI36
NG_016424.1:g.57006del

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.1865-125del
ENST00000682276.1:n.1482-125del
ENST00000682892.1:c.1584-125del ENSP00000507214.1:n.1584-125del
ENST00000682952.1:n.1676-125del
ENST00000684455.1:c.1250-125del
ENST00000684642.1:c.1434-125del ENSP00000507355.1:n.1434-125del
ENST00000684740.1:n.2215-125del
ENST00000303236.9:c.2037-125del MANE Select ENSP00000307235.3:n.2037-125del
ENST00000652099.1:c.2231-125del
ENST00000652736.1:n.1913-125del
ENST00000303236.7:c.2037-125del ENSP00000307235.3:n.2037-125del
ENST00000415570.1:c.1674-125del ENSP00000412076.1:n.1674-125del
ENST00000419748.5:c.1584-125del ENSP00000408325.1:n.1584-125del
ENST00000478003.1:n.603-125del
NM_001313915.1:c.1584-125del NP_001300844.1:n.1584-125del
NM_004836.5:c.2037-125del NP_004827.4:n.2037-125del
NM_004836.6:c.2037-125del NP_004827.4:n.2037-125del
NR_110236.1:n.1708del
XM_005264649.3:c.1353-125del XP_005264706.1:n.1353-125del
XR_939749.1:n.2316-125del
XM_017005376.2:c.1353-125del XP_016860865.1:n.1353-125del
NM_004836.7:c.2037-125del MANE Select NP_004827.4:n.2037-125del
NM_001313915.2:c.1584-125del NP_001300844.1:n.1584-125del