Canonical Allele Identifier: CA2660011077

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575645-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575648_88575649del , CM000664.2:g.88575648_88575649del	GRCh38
NC_000002.11:g.88875166_88875167del , CM000664.1:g.88875166_88875167del	GRCh37
NC_000002.10:g.88656281_88656282del	NCBI36
NG_016424.1:g.56930_56931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-201_1865-200del
ENST00000682276.1:n.1482-201_1482-200del
ENST00000682892.1:c.1584-201_1584-200del	ENSP00000507214.1:n.1584-201_1584-200del
ENST00000682952.1:n.1676-201_1676-200del
ENST00000684455.1:c.1250-201_1250-200del
ENST00000684642.1:c.1434-201_1434-200del	ENSP00000507355.1:n.1434-201_1434-200del
ENST00000684740.1:n.2215-201_2215-200del
ENST00000303236.9:c.2037-201_2037-200del MANE Select	ENSP00000307235.3:n.2037-201_2037-200del
ENST00000652099.1:c.2231-201_2231-200del
ENST00000652736.1:n.1913-201_1913-200del
ENST00000303236.7:c.2037-201_2037-200del	ENSP00000307235.3:n.2037-201_2037-200del
ENST00000415570.1:c.1674-201_1674-200del	ENSP00000412076.1:n.1674-201_1674-200del
ENST00000419748.5:c.1584-201_1584-200del	ENSP00000408325.1:n.1584-201_1584-200del
ENST00000478003.1:n.603-201_603-200del
NM_001313915.1:c.1584-201_1584-200del	NP_001300844.1:n.1584-201_1584-200del
NM_004836.5:c.2037-201_2037-200del	NP_004827.4:n.2037-201_2037-200del
NM_004836.6:c.2037-201_2037-200del	NP_004827.4:n.2037-201_2037-200del
XM_005264649.3:c.1353-201_1353-200del	XP_005264706.1:n.1353-201_1353-200del
XR_939749.1:n.2316-201_2316-200del
XM_017005376.2:c.1353-201_1353-200del	XP_016860865.1:n.1353-201_1353-200del
NM_004836.7:c.2037-201_2037-200del MANE Select	NP_004827.4:n.2037-201_2037-200del
NM_001313915.2:c.1584-201_1584-200del	NP_001300844.1:n.1584-201_1584-200del