Canonical Allele Identifier: CA1268208281
Gene: EIF2AK3 HGNC NCBI

Linked Data

dbSNP Id: rs1674436914

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575573_88575576dup , CM000664.2:g.88575573_88575576dup GRCh38
NC_000002.11:g.88875091_88875094dup , CM000664.1:g.88875091_88875094dup GRCh37
NC_000002.10:g.88656206_88656209dup NCBI36
NG_016424.1:g.57004_57007dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.1865-127_1865-124dup
ENST00000682276.1:n.1482-127_1482-124dup
ENST00000682892.1:c.1584-127_1584-124dup ENSP00000507214.1:n.1584-127_1584-124dup
ENST00000682952.1:n.1676-127_1676-124dup
ENST00000684455.1:c.1250-127_1250-124dup
ENST00000684642.1:c.1434-127_1434-124dup ENSP00000507355.1:n.1434-127_1434-124dup
ENST00000684740.1:n.2215-127_2215-124dup
ENST00000303236.9:c.2037-127_2037-124dup MANE Select ENSP00000307235.3:n.2037-127_2037-124dup
ENST00000652099.1:c.2231-127_2231-124dup
ENST00000652736.1:n.1913-127_1913-124dup
ENST00000303236.7:c.2037-127_2037-124dup ENSP00000307235.3:n.2037-127_2037-124dup
ENST00000415570.1:c.1674-127_1674-124dup ENSP00000412076.1:n.1674-127_1674-124dup
ENST00000419748.5:c.1584-127_1584-124dup ENSP00000408325.1:n.1584-127_1584-124dup
ENST00000478003.1:n.603-127_603-124dup
NM_001313915.1:c.1584-127_1584-124dup NP_001300844.1:n.1584-127_1584-124dup
NM_004836.5:c.2037-127_2037-124dup NP_004827.4:n.2037-127_2037-124dup
NM_004836.6:c.2037-127_2037-124dup NP_004827.4:n.2037-127_2037-124dup
NR_110236.1:n.1710_1713dup
XM_005264649.3:c.1353-127_1353-124dup XP_005264706.1:n.1353-127_1353-124dup
XR_939749.1:n.2316-127_2316-124dup
XM_017005376.2:c.1353-127_1353-124dup XP_016860865.1:n.1353-127_1353-124dup
NM_004836.7:c.2037-127_2037-124dup MANE Select NP_004827.4:n.2037-127_2037-124dup
NM_001313915.2:c.1584-127_1584-124dup NP_001300844.1:n.1584-127_1584-124dup