Canonical Allele Identifier: CA2557556107
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575549_88575550insCAGCTC , CM000664.2:g.88575549_88575550insCAGCTC GRCh38
NC_000002.11:g.88875067_88875068insCAGCTC , CM000664.1:g.88875067_88875068insCAGCTC GRCh37
NC_000002.10:g.88656182_88656183insCAGCTC NCBI36
NG_016424.1:g.57027_57028insGAGCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.1865-104_1865-103insGAGCTG
ENST00000682276.1:n.1482-104_1482-103insGAGCTG
ENST00000682892.1:c.1584-104_1584-103insGAGCTG ENSP00000507214.1:n.1584-104_1584-103insGAGCTG
ENST00000682952.1:n.1676-104_1676-103insGAGCTG
ENST00000684455.1:c.1250-104_1250-103insGAGCTG
ENST00000684642.1:c.1434-104_1434-103insGAGCTG ENSP00000507355.1:n.1434-104_1434-103insGAGCTG
ENST00000684740.1:n.2215-104_2215-103insGAGCTG
ENST00000303236.9:c.2037-104_2037-103insGAGCTG MANE Select ENSP00000307235.3:n.2037-104_2037-103insGAGCTG
ENST00000652099.1:c.2231-104_2231-103insGAGCTG
ENST00000652736.1:n.1913-104_1913-103insGAGCTG
ENST00000303236.7:c.2037-104_2037-103insGAGCTG ENSP00000307235.3:n.2037-104_2037-103insGAGCTG
ENST00000415570.1:c.1674-104_1674-103insGAGCTG ENSP00000412076.1:n.1674-104_1674-103insGAGCTG
ENST00000419748.5:c.1584-104_1584-103insGAGCTG ENSP00000408325.1:n.1584-104_1584-103insGAGCTG
ENST00000478003.1:n.603-104_603-103insGAGCTG
NM_001313915.1:c.1584-104_1584-103insGAGCTG NP_001300844.1:n.1584-104_1584-103insGAGCTG
NM_004836.5:c.2037-104_2037-103insGAGCTG NP_004827.4:n.2037-104_2037-103insGAGCTG
NM_004836.6:c.2037-104_2037-103insGAGCTG NP_004827.4:n.2037-104_2037-103insGAGCTG
NR_110236.1:n.1686_1687insCAGCTC
XM_005264649.3:c.1353-104_1353-103insGAGCTG XP_005264706.1:n.1353-104_1353-103insGAGCTG
XR_939749.1:n.2316-104_2316-103insGAGCTG
XM_017005376.2:c.1353-104_1353-103insGAGCTG XP_016860865.1:n.1353-104_1353-103insGAGCTG
NM_004836.7:c.2037-104_2037-103insGAGCTG MANE Select NP_004827.4:n.2037-104_2037-103insGAGCTG
NM_001313915.2:c.1584-104_1584-103insGAGCTG NP_001300844.1:n.1584-104_1584-103insGAGCTG