Canonical Allele Identifier: CA2660011026

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575082-TCTCCCTTGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575085_88575094del , CM000664.2:g.88575085_88575094del	GRCh38
NC_000002.11:g.88874603_88874612del , CM000664.1:g.88874603_88874612del	GRCh37
NC_000002.10:g.88655718_88655727del	NCBI36
NG_016424.1:g.57485_57494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2219_2228del
ENST00000682276.1:n.1836_1845del
ENST00000682892.1:c.1938_1947del	ENSP00000507214.1:p.Ser647GlufsTer6
ENST00000682952.1:n.2030_2039del
ENST00000684455.1:c.1604_1613del
ENST00000684642.1:c.1788_1797del	ENSP00000507355.1:p.Ser597GlufsTer6
ENST00000684740.1:n.2569_2578del
ENST00000303236.9:c.2391_2400del MANE Select	ENSP00000307235.3:p.Ser798GlufsTer6
ENST00000652099.1:c.2585_2594del
ENST00000652736.1:n.2267_2276del
ENST00000303236.7:c.2391_2400del	ENSP00000307235.3:p.Ser798GlufsTer6
ENST00000415570.1:c.2028_2037del	ENSP00000412076.1:p.Ser677GlufsTer6
ENST00000419748.5:c.1938_1947del	ENSP00000408325.1:p.Ser647GlufsTer6
ENST00000470706.1:n.49-15_49-6del
NM_001313915.1:c.1938_1947del	NP_001300844.1:p.Ser647GlufsTer6
NM_004836.5:c.2391_2400del	NP_004827.4:p.Ser798GlufsTer6
NM_004836.6:c.2391_2400del	NP_004827.4:p.Ser798GlufsTer6
NR_110236.1:n.1222_1231del
XM_005264649.3:c.1707_1716del	XP_005264706.1:p.Ser570GlufsTer6
XM_017005376.2:c.1707_1716del	XP_016860865.1:p.Ser570GlufsTer6
NM_004836.7:c.2391_2400del MANE Select	NP_004827.4:p.Ser798GlufsTer6
NM_001313915.2:c.1938_1947del	NP_001300844.1:p.Ser647GlufsTer6