Canonical Allele Identifier: CA1425958649

Gene: EIF4G1 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327638_184327641delinsTGAG , CM000665.2:g.184327638_184327641delinsTGAG	GRCh38
NC_000003.11:g.184045426_184045429delinsTGAG , CM000665.1:g.184045426_184045429delinsTGAG	GRCh37
NC_000003.10:g.185528120_185528123delinsTGAG	NCBI36
NG_016850.1:g.18071_18074delinsTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3714_3717delinsTGAG (EIF4G1) MANE Select	ENSP00000316879.5:p.Ser1238=
ENST00000435046.7:c.3648_3651delinsTGAG (EIF4G1)	ENSP00000404754.3:p.Ser1216=
ENST00000676453.1:c.3061_3064delinsTGAG (EIF4G1)	ENSP00000501695.1:n.3061_3064delinsTGAG
ENST00000319274.10:c.3117_3120delinsTGAG (EIF4G1)	ENSP00000323737.7:p.Ser1039=
ENST00000342981.8:c.3717_3720delinsTGAG (EIF4G1)	ENSP00000343450.4:p.Ser1239=
ENST00000346169.6:c.3714_3717delinsTGAG (EIF4G1)	ENSP00000316879.4:p.Ser1238=
ENST00000350481.9:c.3222_3225delinsTGAG (EIF4G1)	ENSP00000317600.8:p.Ser1074=
ENST00000352767.7:c.3735_3738delinsTGAG (EIF4G1)	ENSP00000338020.4:p.Ser1245=
ENST00000382330.7:c.3735_3738delinsTGAG (EIF4G1)	ENSP00000371767.3:p.Ser1245=
ENST00000392537.6:c.3453_3456delinsTGAG (EIF4G1)	ENSP00000376320.2:p.Ser1151=
ENST00000411531.5:c.3597_3600delinsTGAG (EIF4G1)	ENSP00000395974.1:p.Ser1199=
ENST00000414031.5:c.3594_3597delinsTGAG (EIF4G1)	ENSP00000391935.1:p.Ser1198=
ENST00000424196.5:c.3735_3738delinsTGAG (EIF4G1)	ENSP00000416255.1:p.Ser1245=
ENST00000427845.5:c.3456_3459delinsTGAG (EIF4G1)	ENSP00000407682.1:p.Ser1152=
ENST00000434061.6:c.3129_3132delinsTGAG (EIF4G1)	ENSP00000411826.2:p.Ser1043=
ENST00000435046.6:c.3126_3129delinsTGAG (EIF4G1)	ENSP00000404754.2:p.Ser1042=
ENST00000441154.5:c.3225_3228delinsTGAG (EIF4G1)	ENSP00000399858.1:p.Ser1075=
ENST00000442406.5:c.*3153_*3156delinsTGAG (EIF4G1)	ENSP00000400351.1:n.*3153_*3156delinsTGAG
ENST00000444495.1:c.2106+182931_2106+182934delinsTGAG (EIF2B5)	ENSP00000409142.1:n.2106+182931_2106+182934delinsTGAG
ENST00000482303.1:n.216_219delinsTGAG (EIF4G1)
NM_001194946.1:c.3735_3738delinsTGAG (EIF4G1)	NP_001181875.1:p.Ser1245=
NM_001194947.1:c.3735_3738delinsTGAG (EIF4G1)	NP_001181876.1:p.Ser1245=
NM_001291157.1:c.3594_3597delinsTGAG (EIF4G1)	NP_001278086.1:p.Ser1198=
NM_004953.4:c.3129_3132delinsTGAG (EIF4G1)	NP_004944.3:p.Ser1043=
NM_182917.4:c.3717_3720delinsTGAG (EIF4G1)	NP_886553.3:p.Ser1239=
NM_198241.2:c.3714_3717delinsTGAG (EIF4G1)	NP_937884.1:p.Ser1238=
NM_198242.2:c.3222_3225delinsTGAG (EIF4G1)	NP_937885.1:p.Ser1074=
NM_198244.2:c.3453_3456delinsTGAG (EIF4G1)	NP_937887.1:p.Ser1151=
NM_001194946.2:c.3735_3738delinsTGAG (EIF4G1)	NP_001181875.2:p.Ser1245=
NM_001291157.2:c.3594_3597delinsTGAG (EIF4G1)	NP_001278086.2:p.Ser1198=
NM_004953.5:c.3129_3132delinsTGAG (EIF4G1)	NP_004944.3:p.Ser1043=
NM_198241.3:c.3714_3717delinsTGAG (EIF4G1) MANE Select	NP_937884.2:p.Ser1238=
NM_198242.3:c.3222_3225delinsTGAG (EIF4G1)	NP_937885.1:p.Ser1074=
NM_198244.3:c.3453_3456delinsTGAG (EIF4G1)	NP_937887.2:p.Ser1151=
NM_001194947.2:c.3735_3738delinsTGAG (EIF4G1)	NP_001181876.2:p.Ser1245=