Canonical Allele Identifier: CA2660011071

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575639-AACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575641_88575644del , CM000664.2:g.88575641_88575644del	GRCh38
NC_000002.11:g.88875159_88875162del , CM000664.1:g.88875159_88875162del	GRCh37
NC_000002.10:g.88656274_88656277del	NCBI36
NG_016424.1:g.56934_56937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-197_1865-194del
ENST00000682276.1:n.1482-197_1482-194del
ENST00000682892.1:c.1584-197_1584-194del	ENSP00000507214.1:n.1584-197_1584-194del
ENST00000682952.1:n.1676-197_1676-194del
ENST00000684455.1:c.1250-197_1250-194del
ENST00000684642.1:c.1434-197_1434-194del	ENSP00000507355.1:n.1434-197_1434-194del
ENST00000684740.1:n.2215-197_2215-194del
ENST00000303236.9:c.2037-197_2037-194del MANE Select	ENSP00000307235.3:n.2037-197_2037-194del
ENST00000652099.1:c.2231-197_2231-194del
ENST00000652736.1:n.1913-197_1913-194del
ENST00000303236.7:c.2037-197_2037-194del	ENSP00000307235.3:n.2037-197_2037-194del
ENST00000415570.1:c.1674-197_1674-194del	ENSP00000412076.1:n.1674-197_1674-194del
ENST00000419748.5:c.1584-197_1584-194del	ENSP00000408325.1:n.1584-197_1584-194del
ENST00000478003.1:n.603-197_603-194del
NM_001313915.1:c.1584-197_1584-194del	NP_001300844.1:n.1584-197_1584-194del
NM_004836.5:c.2037-197_2037-194del	NP_004827.4:n.2037-197_2037-194del
NM_004836.6:c.2037-197_2037-194del	NP_004827.4:n.2037-197_2037-194del
XM_005264649.3:c.1353-197_1353-194del	XP_005264706.1:n.1353-197_1353-194del
XR_939749.1:n.2316-197_2316-194del
XM_017005376.2:c.1353-197_1353-194del	XP_016860865.1:n.1353-197_1353-194del
NM_004836.7:c.2037-197_2037-194del MANE Select	NP_004827.4:n.2037-197_2037-194del
NM_001313915.2:c.1584-197_1584-194del	NP_001300844.1:n.1584-197_1584-194del