Canonical Allele Identifier: CA1033357267

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1674438939
• gnomAD v3: 2-88575622-ATTCAT-A
• gnomAD v4: 2-88575622-ATTCAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575624_88575628del , CM000664.2:g.88575624_88575628del	GRCh38
NC_000002.11:g.88875142_88875146del , CM000664.1:g.88875142_88875146del	GRCh37
NC_000002.10:g.88656257_88656261del	NCBI36
NG_016424.1:g.56950_56954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-181_1865-177del
ENST00000682276.1:n.1482-181_1482-177del
ENST00000682892.1:c.1584-181_1584-177del	ENSP00000507214.1:n.1584-181_1584-177del
ENST00000682952.1:n.1676-181_1676-177del
ENST00000684455.1:c.1250-181_1250-177del
ENST00000684642.1:c.1434-181_1434-177del	ENSP00000507355.1:n.1434-181_1434-177del
ENST00000684740.1:n.2215-181_2215-177del
ENST00000303236.9:c.2037-181_2037-177del MANE Select	ENSP00000307235.3:n.2037-181_2037-177del
ENST00000652099.1:c.2231-181_2231-177del
ENST00000652736.1:n.1913-181_1913-177del
ENST00000303236.7:c.2037-181_2037-177del	ENSP00000307235.3:n.2037-181_2037-177del
ENST00000415570.1:c.1674-181_1674-177del	ENSP00000412076.1:n.1674-181_1674-177del
ENST00000419748.5:c.1584-181_1584-177del	ENSP00000408325.1:n.1584-181_1584-177del
ENST00000478003.1:n.603-181_603-177del
NM_001313915.1:c.1584-181_1584-177del	NP_001300844.1:n.1584-181_1584-177del
NM_004836.5:c.2037-181_2037-177del	NP_004827.4:n.2037-181_2037-177del
NM_004836.6:c.2037-181_2037-177del	NP_004827.4:n.2037-181_2037-177del
XM_005264649.3:c.1353-181_1353-177del	XP_005264706.1:n.1353-181_1353-177del
XR_939749.1:n.2316-181_2316-177del
XM_017005376.2:c.1353-181_1353-177del	XP_016860865.1:n.1353-181_1353-177del
NM_004836.7:c.2037-181_2037-177del MANE Select	NP_004827.4:n.2037-181_2037-177del
NM_001313915.2:c.1584-181_1584-177del	NP_001300844.1:n.1584-181_1584-177del