Canonical Allele Identifier: CA1268208280

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575569_88575573delinsAACAT , CM000664.2:g.88575569_88575573delinsAACAT	GRCh38
NC_000002.11:g.88875087_88875091delinsAACAT , CM000664.1:g.88875087_88875091delinsAACAT	GRCh37
NC_000002.10:g.88656202_88656206delinsAACAT	NCBI36
NG_016424.1:g.57004_57008delinsATGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-127_1865-123delinsATGTT
ENST00000682276.1:n.1482-127_1482-123delinsATGTT
ENST00000682892.1:c.1584-127_1584-123delinsATGTT	ENSP00000507214.1:n.1584-127_1584-123delinsATGTT
ENST00000682952.1:n.1676-127_1676-123delinsATGTT
ENST00000684455.1:c.1250-127_1250-123delinsATGTT
ENST00000684642.1:c.1434-127_1434-123delinsATGTT	ENSP00000507355.1:n.1434-127_1434-123delinsATGTT
ENST00000684740.1:n.2215-127_2215-123delinsATGTT
ENST00000303236.9:c.2037-127_2037-123delinsATGTT MANE Select	ENSP00000307235.3:n.2037-127_2037-123delinsATGTT
ENST00000652099.1:c.2231-127_2231-123delinsATGTT
ENST00000652736.1:n.1913-127_1913-123delinsATGTT
ENST00000303236.7:c.2037-127_2037-123delinsATGTT	ENSP00000307235.3:n.2037-127_2037-123delinsATGTT
ENST00000415570.1:c.1674-127_1674-123delinsATGTT	ENSP00000412076.1:n.1674-127_1674-123delinsATGTT
ENST00000419748.5:c.1584-127_1584-123delinsATGTT	ENSP00000408325.1:n.1584-127_1584-123delinsATGTT
ENST00000478003.1:n.603-127_603-123delinsATGTT
NM_001313915.1:c.1584-127_1584-123delinsATGTT	NP_001300844.1:n.1584-127_1584-123delinsATGTT
NM_004836.5:c.2037-127_2037-123delinsATGTT	NP_004827.4:n.2037-127_2037-123delinsATGTT
NM_004836.6:c.2037-127_2037-123delinsATGTT	NP_004827.4:n.2037-127_2037-123delinsATGTT
NR_110236.1:n.1706_1710delinsAACAT
XM_005264649.3:c.1353-127_1353-123delinsATGTT	XP_005264706.1:n.1353-127_1353-123delinsATGTT
XR_939749.1:n.2316-127_2316-123delinsATGTT
XM_017005376.2:c.1353-127_1353-123delinsATGTT	XP_016860865.1:n.1353-127_1353-123delinsATGTT
NM_004836.7:c.2037-127_2037-123delinsATGTT MANE Select	NP_004827.4:n.2037-127_2037-123delinsATGTT
NM_001313915.2:c.1584-127_1584-123delinsATGTT	NP_001300844.1:n.1584-127_1584-123delinsATGTT