Canonical Allele Identifier: CA2759716531

Gene: EIF4G1 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184322059del , CM000665.2:g.184322059del	GRCh38
NC_000003.11:g.184039847del , CM000665.1:g.184039847del	GRCh37
NC_000003.10:g.185522541del	NCBI36
NG_016850.1:g.12492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.1475del (EIF4G1) MANE Select	ENSP00000316879.5:p.Pro492GlnfsTer30
ENST00000435046.7:c.1409del (EIF4G1)	ENSP00000404754.3:p.Pro470GlnfsTer30
ENST00000676453.1:c.845del (EIF4G1)	ENSP00000501695.1:p.Pro282GlnfsTer30
ENST00000319274.10:c.887del (EIF4G1)	ENSP00000323737.7:p.Pro296GlnfsTer30
ENST00000342981.8:c.1475del (EIF4G1)	ENSP00000343450.4:p.Pro492GlnfsTer30
ENST00000346169.6:c.1475del (EIF4G1)	ENSP00000316879.4:p.Pro492GlnfsTer30
ENST00000350481.9:c.983del (EIF4G1)	ENSP00000317600.8:p.Pro328GlnfsTer30
ENST00000352767.7:c.1496del (EIF4G1)	ENSP00000338020.4:p.Pro499GlnfsTer30
ENST00000382330.7:c.1496del (EIF4G1)	ENSP00000371767.3:p.Pro499GlnfsTer30
ENST00000392537.6:c.1214del (EIF4G1)	ENSP00000376320.2:p.Pro405GlnfsTer30
ENST00000411531.5:c.1355del (EIF4G1)	ENSP00000395974.1:p.Pro452GlnfsTer30
ENST00000413967.5:c.*982del (EIF4G1)	ENSP00000390755.1:n.*982del
ENST00000414031.5:c.1355del (EIF4G1)	ENSP00000391935.1:p.Pro452GlnfsTer30
ENST00000421110.5:c.1496del (EIF4G1)	ENSP00000413159.1:p.Pro499GlnfsTer30
ENST00000424196.5:c.1496del (EIF4G1)	ENSP00000416255.1:p.Pro499GlnfsTer30
ENST00000426123.5:c.1298del (EIF4G1)	ENSP00000403269.1:p.Pro433GlnfsTer30
ENST00000427845.5:c.1214del (EIF4G1)	ENSP00000407682.1:p.Pro405GlnfsTer30
ENST00000434061.6:c.887del (EIF4G1)	ENSP00000411826.2:p.Pro296GlnfsTer30
ENST00000435046.6:c.887del (EIF4G1)	ENSP00000404754.2:p.Pro296GlnfsTer30
ENST00000441154.5:c.983del (EIF4G1)	ENSP00000399858.1:p.Pro328GlnfsTer30
ENST00000442406.5:c.*914del (EIF4G1)	ENSP00000400351.1:n.*914del
ENST00000444495.1:c.2106+177352del (EIF2B5)	ENSP00000409142.1:n.2106+177352del
ENST00000444861.5:c.983del (EIF4G1)	ENSP00000398145.1:p.Pro328GlnfsTer30
ENST00000450424.5:c.1475del (EIF4G1)	ENSP00000391412.1:p.Pro492GlnfsTer30
NM_001194946.1:c.1496del (EIF4G1)	NP_001181875.1:p.Pro499GlnfsTer30
NM_001194947.1:c.1496del (EIF4G1)	NP_001181876.1:p.Pro499GlnfsTer30
NM_001291157.1:c.1355del (EIF4G1)	NP_001278086.1:p.Pro452GlnfsTer30
NM_004953.4:c.887del (EIF4G1)	NP_004944.3:p.Pro296GlnfsTer30
NM_182917.4:c.1475del (EIF4G1)	NP_886553.3:p.Pro492GlnfsTer30
NM_198241.2:c.1475del (EIF4G1)	NP_937884.1:p.Pro492GlnfsTer30
NM_198242.2:c.983del (EIF4G1)	NP_937885.1:p.Pro328GlnfsTer30
NM_198244.2:c.1214del (EIF4G1)	NP_937887.1:p.Pro405GlnfsTer30
NM_001194946.2:c.1496del (EIF4G1)	NP_001181875.2:p.Pro499GlnfsTer30
NM_001291157.2:c.1355del (EIF4G1)	NP_001278086.2:p.Pro452GlnfsTer30
NM_004953.5:c.887del (EIF4G1)	NP_004944.3:p.Pro296GlnfsTer30
NM_198241.3:c.1475del (EIF4G1) MANE Select	NP_937884.2:p.Pro492GlnfsTer30
NM_198242.3:c.983del (EIF4G1)	NP_937885.1:p.Pro328GlnfsTer30
NM_198244.3:c.1214del (EIF4G1)	NP_937887.2:p.Pro405GlnfsTer30
NM_001194947.2:c.1496del (EIF4G1)	NP_001181876.2:p.Pro499GlnfsTer30