Canonical Allele Identifier: CA2660011040

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575513-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575516_88575517del , CM000664.2:g.88575516_88575517del	GRCh38
NC_000002.11:g.88875034_88875035del , CM000664.1:g.88875034_88875035del	GRCh37
NC_000002.10:g.88656149_88656150del	NCBI36
NG_016424.1:g.57062_57063del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-69_1865-68del
ENST00000682276.1:n.1482-69_1482-68del
ENST00000682892.1:c.1584-69_1584-68del	ENSP00000507214.1:n.1584-69_1584-68del
ENST00000682952.1:n.1676-69_1676-68del
ENST00000684455.1:c.1250-69_1250-68del
ENST00000684642.1:c.1434-69_1434-68del	ENSP00000507355.1:n.1434-69_1434-68del
ENST00000684740.1:n.2215-69_2215-68del
ENST00000303236.9:c.2037-69_2037-68del MANE Select	ENSP00000307235.3:n.2037-69_2037-68del
ENST00000652099.1:c.2231-69_2231-68del
ENST00000652736.1:n.1913-69_1913-68del
ENST00000303236.7:c.2037-69_2037-68del	ENSP00000307235.3:n.2037-69_2037-68del
ENST00000415570.1:c.1674-69_1674-68del	ENSP00000412076.1:n.1674-69_1674-68del
ENST00000419748.5:c.1584-69_1584-68del	ENSP00000408325.1:n.1584-69_1584-68del
ENST00000478003.1:n.603-69_603-68del
NM_001313915.1:c.1584-69_1584-68del	NP_001300844.1:n.1584-69_1584-68del
NM_004836.5:c.2037-69_2037-68del	NP_004827.4:n.2037-69_2037-68del
NM_004836.6:c.2037-69_2037-68del	NP_004827.4:n.2037-69_2037-68del
NR_110236.1:n.1653_1654del
XM_005264649.3:c.1353-69_1353-68del	XP_005264706.1:n.1353-69_1353-68del
XR_939749.1:n.2316-69_2316-68del
XM_017005376.2:c.1353-69_1353-68del	XP_016860865.1:n.1353-69_1353-68del
NM_004836.7:c.2037-69_2037-68del MANE Select	NP_004827.4:n.2037-69_2037-68del
NM_001313915.2:c.1584-69_1584-68del	NP_001300844.1:n.1584-69_1584-68del