Canonical Allele Identifier: CA2660011028

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575100-AAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575103_88575105del , CM000664.2:g.88575103_88575105del	GRCh38
NC_000002.11:g.88874621_88874623del , CM000664.1:g.88874621_88874623del	GRCh37
NC_000002.10:g.88655736_88655738del	NCBI36
NG_016424.1:g.57474_57476del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2208_2210del
ENST00000682276.1:n.1825_1827del
ENST00000682892.1:c.1927_1929del	ENSP00000507214.1:p.Pro643del
ENST00000682952.1:n.2019_2021del
ENST00000684455.1:c.1593_1595del
ENST00000684642.1:c.1777_1779del	ENSP00000507355.1:p.Pro593del
ENST00000684740.1:n.2558_2560del
ENST00000303236.9:c.2380_2382del MANE Select	ENSP00000307235.3:p.Pro794del
ENST00000652099.1:c.2574_2576del
ENST00000652736.1:n.2256_2258del
ENST00000303236.7:c.2380_2382del	ENSP00000307235.3:p.Pro794del
ENST00000415570.1:c.2017_2019del	ENSP00000412076.1:p.Pro673del
ENST00000419748.5:c.1927_1929del	ENSP00000408325.1:p.Pro643del
ENST00000470706.1:n.49-26_49-24del
NM_001313915.1:c.1927_1929del	NP_001300844.1:p.Pro643del
NM_004836.5:c.2380_2382del	NP_004827.4:p.Pro794del
NM_004836.6:c.2380_2382del	NP_004827.4:p.Pro794del
NR_110236.1:n.1240_1242del
XM_005264649.3:c.1696_1698del	XP_005264706.1:p.Pro566del
XM_017005376.2:c.1696_1698del	XP_016860865.1:p.Pro566del
NM_004836.7:c.2380_2382del MANE Select	NP_004827.4:p.Pro794del
NM_001313915.2:c.1927_1929del	NP_001300844.1:p.Pro643del