Canonical Allele Identifier: CA2660011045
Gene: EIF2AK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575589_88575591del , CM000664.2:g.88575589_88575591del GRCh38
NC_000002.11:g.88875107_88875109del , CM000664.1:g.88875107_88875109del GRCh37
NC_000002.10:g.88656222_88656224del NCBI36
NG_016424.1:g.56987_56989del

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.1865-144_1865-142del
ENST00000682276.1:n.1482-144_1482-142del
ENST00000682892.1:c.1584-144_1584-142del ENSP00000507214.1:n.1584-144_1584-142del
ENST00000682952.1:n.1676-144_1676-142del
ENST00000684455.1:c.1250-144_1250-142del
ENST00000684642.1:c.1434-144_1434-142del ENSP00000507355.1:n.1434-144_1434-142del
ENST00000684740.1:n.2215-144_2215-142del
ENST00000303236.9:c.2037-144_2037-142del MANE Select ENSP00000307235.3:n.2037-144_2037-142del
ENST00000652099.1:c.2231-144_2231-142del
ENST00000652736.1:n.1913-144_1913-142del
ENST00000303236.7:c.2037-144_2037-142del ENSP00000307235.3:n.2037-144_2037-142del
ENST00000415570.1:c.1674-144_1674-142del ENSP00000412076.1:n.1674-144_1674-142del
ENST00000419748.5:c.1584-144_1584-142del ENSP00000408325.1:n.1584-144_1584-142del
ENST00000478003.1:n.603-144_603-142del
NM_001313915.1:c.1584-144_1584-142del NP_001300844.1:n.1584-144_1584-142del
NM_004836.5:c.2037-144_2037-142del NP_004827.4:n.2037-144_2037-142del
NM_004836.6:c.2037-144_2037-142del NP_004827.4:n.2037-144_2037-142del
NR_110236.1:n.1726_1728del
XM_005264649.3:c.1353-144_1353-142del XP_005264706.1:n.1353-144_1353-142del
XR_939749.1:n.2316-144_2316-142del
XM_017005376.2:c.1353-144_1353-142del XP_016860865.1:n.1353-144_1353-142del
NM_004836.7:c.2037-144_2037-142del MANE Select NP_004827.4:n.2037-144_2037-142del
NM_001313915.2:c.1584-144_1584-142del NP_001300844.1:n.1584-144_1584-142del