Canonical Allele Identifier: CA1425952963
Gene: EIF4G1 HGNC NCBI
EIF2B5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184321955_184321964delinsGGAAGAAGAA , CM000665.2:g.184321955_184321964delinsGGAAGAAGAA GRCh38
NC_000003.11:g.184039743_184039752delinsGGAAGAAGAA , CM000665.1:g.184039743_184039752delinsGGAAGAAGAA GRCh37
NC_000003.10:g.185522437_185522446delinsGGAAGAAGAA NCBI36
NG_016850.1:g.12388_12397delinsGGAAGAAGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000346169.7:c.1371_1380delinsGGAAGAAGAA (EIF4G1) MANE Select ENSP00000316879.5:p.Met457=
ENST00000435046.7:c.1305_1314delinsGGAAGAAGAA (EIF4G1) ENSP00000404754.3:p.Met435=
ENST00000676453.1:c.741_750delinsGGAAGAAGAA (EIF4G1) ENSP00000501695.1:p.Met247=
ENST00000319274.10:c.783_792delinsGGAAGAAGAA (EIF4G1) ENSP00000323737.7:p.Met261=
ENST00000342981.8:c.1371_1380delinsGGAAGAAGAA (EIF4G1) ENSP00000343450.4:p.Met457=
ENST00000346169.6:c.1371_1380delinsGGAAGAAGAA (EIF4G1) ENSP00000316879.4:p.Met457=
ENST00000350481.9:c.879_888delinsGGAAGAAGAA (EIF4G1) ENSP00000317600.8:p.Met293=
ENST00000352767.7:c.1392_1401delinsGGAAGAAGAA (EIF4G1) ENSP00000338020.4:p.Met464=
ENST00000382330.7:c.1392_1401delinsGGAAGAAGAA (EIF4G1) ENSP00000371767.3:p.Met464=
ENST00000392537.6:c.1110_1119delinsGGAAGAAGAA (EIF4G1) ENSP00000376320.2:p.Met370=
ENST00000411531.5:c.1251_1260delinsGGAAGAAGAA (EIF4G1) ENSP00000395974.1:p.Met417=
ENST00000413967.5:c.*878_*887delinsGGAAGAAGAA (EIF4G1) ENSP00000390755.1:n.*878_*887delinsGGAAGAAGAA
ENST00000414031.5:c.1251_1260delinsGGAAGAAGAA (EIF4G1) ENSP00000391935.1:p.Met417=
ENST00000421110.5:c.1392_1401delinsGGAAGAAGAA (EIF4G1) ENSP00000413159.1:p.Met464=
ENST00000424196.5:c.1392_1401delinsGGAAGAAGAA (EIF4G1) ENSP00000416255.1:p.Met464=
ENST00000426123.5:c.1194_1203delinsGGAAGAAGAA (EIF4G1) ENSP00000403269.1:p.Met398=
ENST00000427845.5:c.1110_1119delinsGGAAGAAGAA (EIF4G1) ENSP00000407682.1:p.Met370=
ENST00000434061.6:c.783_792delinsGGAAGAAGAA (EIF4G1) ENSP00000411826.2:p.Met261=
ENST00000435046.6:c.783_792delinsGGAAGAAGAA (EIF4G1) ENSP00000404754.2:p.Met261=
ENST00000441154.5:c.879_888delinsGGAAGAAGAA (EIF4G1) ENSP00000399858.1:p.Met293=
ENST00000442406.5:c.*810_*819delinsGGAAGAAGAA (EIF4G1) ENSP00000400351.1:n.*810_*819delinsGGAAGAAGAA
ENST00000444495.1:c.2106+177248_2106+177257delinsGGAAGAAGAA (EIF2B5) ENSP00000409142.1:n.2106+177248_2106+177257delinsGGAAGAAGAA
ENST00000444861.5:c.879_888delinsGGAAGAAGAA (EIF4G1) ENSP00000398145.1:p.Met293=
ENST00000450424.5:c.1371_1380delinsGGAAGAAGAA (EIF4G1) ENSP00000391412.1:p.Met457=
ENST00000457456.5:c.783_792delinsGGAAGAAGAA (EIF4G1) ENSP00000399969.1:p.Met261=
NM_001194946.1:c.1392_1401delinsGGAAGAAGAA (EIF4G1) NP_001181875.1:p.Met464=
NM_001194947.1:c.1392_1401delinsGGAAGAAGAA (EIF4G1) NP_001181876.1:p.Met464=
NM_001291157.1:c.1251_1260delinsGGAAGAAGAA (EIF4G1) NP_001278086.1:p.Met417=
NM_004953.4:c.783_792delinsGGAAGAAGAA (EIF4G1) NP_004944.3:p.Met261=
NM_182917.4:c.1371_1380delinsGGAAGAAGAA (EIF4G1) NP_886553.3:p.Met457=
NM_198241.2:c.1371_1380delinsGGAAGAAGAA (EIF4G1) NP_937884.1:p.Met457=
NM_198242.2:c.879_888delinsGGAAGAAGAA (EIF4G1) NP_937885.1:p.Met293=
NM_198244.2:c.1110_1119delinsGGAAGAAGAA (EIF4G1) NP_937887.1:p.Met370=
NM_001194946.2:c.1392_1401delinsGGAAGAAGAA (EIF4G1) NP_001181875.2:p.Met464=
NM_001291157.2:c.1251_1260delinsGGAAGAAGAA (EIF4G1) NP_001278086.2:p.Met417=
NM_004953.5:c.783_792delinsGGAAGAAGAA (EIF4G1) NP_004944.3:p.Met261=
NM_198241.3:c.1371_1380delinsGGAAGAAGAA (EIF4G1) MANE Select NP_937884.2:p.Met457=
NM_198242.3:c.879_888delinsGGAAGAAGAA (EIF4G1) NP_937885.1:p.Met293=
NM_198244.3:c.1110_1119delinsGGAAGAAGAA (EIF4G1) NP_937887.2:p.Met370=
NM_001194947.2:c.1392_1401delinsGGAAGAAGAA (EIF4G1) NP_001181876.2:p.Met464=