Canonical Allele Identifier: CA2759716609

Gene: EIF4G1 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184327263_184327289del , CM000665.2:g.184327263_184327289del	GRCh38
NC_000003.11:g.184045051_184045077del , CM000665.1:g.184045051_184045077del	GRCh37
NC_000003.10:g.185527745_185527771del	NCBI36
NG_016850.1:g.17696_17722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3476_3502del (EIF4G1) MANE Select	ENSP00000316879.5:p.Asp1159_Gly1167del
ENST00000435046.7:c.3410_3436del (EIF4G1)	ENSP00000404754.3:p.Asp1137_Gly1145del
ENST00000676453.1:c.2823_2849del (EIF4G1)	ENSP00000501695.1:n.2823_2849del
ENST00000319274.10:c.2882_2907del (EIF4G1)
ENST00000342981.8:c.3479_3505del (EIF4G1)	ENSP00000343450.4:p.Asp1160_Gly1168del
ENST00000346169.6:c.3476_3502del (EIF4G1)	ENSP00000316879.4:p.Asp1159_Gly1167del
ENST00000350481.9:c.2984_3010del (EIF4G1)	ENSP00000317600.8:p.Asp995_Gly1003del
ENST00000352767.7:c.3497_3523del (EIF4G1)	ENSP00000338020.4:p.Asp1166_Gly1174del
ENST00000382330.7:c.3497_3523del (EIF4G1)	ENSP00000371767.3:p.Asp1166_Gly1174del
ENST00000392537.6:c.3215_3241del (EIF4G1)	ENSP00000376320.2:p.Asp1072_Gly1080del
ENST00000411531.5:c.3359_3385del (EIF4G1)	ENSP00000395974.1:p.Asp1120_Gly1128del
ENST00000414031.5:c.3356_3382del (EIF4G1)	ENSP00000391935.1:p.Asp1119_Gly1127del
ENST00000424196.5:c.3497_3523del (EIF4G1)	ENSP00000416255.1:p.Asp1166_Gly1174del
ENST00000427845.5:c.3218_3244del (EIF4G1)	ENSP00000407682.1:p.Asp1073_Gly1081del
ENST00000434061.6:c.2891_2917del (EIF4G1)	ENSP00000411826.2:p.Asp964_Gly972del
ENST00000435046.6:c.2888_2914del (EIF4G1)	ENSP00000404754.2:p.Asp963_Gly971del
ENST00000441154.5:c.2987_3013del (EIF4G1)	ENSP00000399858.1:p.Asp996_Gly1004del
ENST00000442406.5:c.*2915_*2941del (EIF4G1)	ENSP00000400351.1:n.*2915_*2941del
ENST00000444495.1:c.2106+182556_2106+182582del (EIF2B5)	ENSP00000409142.1:n.2106+182556_2106+182582del
ENST00000448284.1:c.637_663del (EIF4G1)
NM_001194946.1:c.3497_3523del (EIF4G1)	NP_001181875.1:p.Asp1166_Gly1174del
NM_001194947.1:c.3497_3523del (EIF4G1)	NP_001181876.1:p.Asp1166_Gly1174del
NM_001291157.1:c.3356_3382del (EIF4G1)	NP_001278086.1:p.Asp1119_Gly1127del
NM_004953.4:c.2891_2917del (EIF4G1)	NP_004944.3:p.Asp964_Gly972del
NM_182917.4:c.3479_3505del (EIF4G1)	NP_886553.3:p.Asp1160_Gly1168del
NM_198241.2:c.3476_3502del (EIF4G1)	NP_937884.1:p.Asp1159_Gly1167del
NM_198242.2:c.2984_3010del (EIF4G1)	NP_937885.1:p.Asp995_Gly1003del
NM_198244.2:c.3215_3241del (EIF4G1)	NP_937887.1:p.Asp1072_Gly1080del
NM_001194946.2:c.3497_3523del (EIF4G1)	NP_001181875.2:p.Asp1166_Gly1174del
NM_001291157.2:c.3356_3382del (EIF4G1)	NP_001278086.2:p.Asp1119_Gly1127del
NM_004953.5:c.2891_2917del (EIF4G1)	NP_004944.3:p.Asp964_Gly972del
NM_198241.3:c.3476_3502del (EIF4G1) MANE Select	NP_937884.2:p.Asp1159_Gly1167del
NM_198242.3:c.2984_3010del (EIF4G1)	NP_937885.1:p.Asp995_Gly1003del
NM_198244.3:c.3215_3241del (EIF4G1)	NP_937887.2:p.Asp1072_Gly1080del
NM_001194947.2:c.3497_3523del (EIF4G1)	NP_001181876.2:p.Asp1166_Gly1174del