Canonical Allele Identifier: CA437330552
Gene: EIF4G1 HGNC NCBI
EIF2B5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.184045394del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184327610del , CM000665.2:g.184327610del GRCh38
NC_000003.11:g.184045398del , CM000665.1:g.184045398del GRCh37
NC_000003.10:g.185528092del NCBI36
NG_016850.1:g.18043del

Transcript Alleles

HGVS Amino-acid Change
ENST00000346169.7:c.3686del (EIF4G1) MANE Select ENSP00000316879.5:p.Pro1229GlnfsTer2
ENST00000435046.7:c.3620del (EIF4G1) ENSP00000404754.3:p.Pro1207GlnfsTer2
ENST00000676453.1:c.3033del (EIF4G1) ENSP00000501695.1:n.3033del
ENST00000319274.10:c.3089del (EIF4G1) ENSP00000323737.7:p.Pro1030GlnfsTer2
ENST00000342981.8:c.3689del (EIF4G1) ENSP00000343450.4:p.Pro1230GlnfsTer2
ENST00000346169.6:c.3686del (EIF4G1) ENSP00000316879.4:p.Pro1229GlnfsTer2
ENST00000350481.9:c.3194del (EIF4G1) ENSP00000317600.8:p.Pro1065GlnfsTer2
ENST00000352767.7:c.3707del (EIF4G1) ENSP00000338020.4:p.Pro1236GlnfsTer2
ENST00000382330.7:c.3707del (EIF4G1) ENSP00000371767.3:p.Pro1236GlnfsTer2
ENST00000392537.6:c.3425del (EIF4G1) ENSP00000376320.2:p.Pro1142GlnfsTer2
ENST00000411531.5:c.3569del (EIF4G1) ENSP00000395974.1:p.Pro1190GlnfsTer2
ENST00000414031.5:c.3566del (EIF4G1) ENSP00000391935.1:p.Pro1189GlnfsTer2
ENST00000424196.5:c.3707del (EIF4G1) ENSP00000416255.1:p.Pro1236GlnfsTer2
ENST00000427845.5:c.3428del (EIF4G1) ENSP00000407682.1:p.Pro1143GlnfsTer2
ENST00000434061.6:c.3101del (EIF4G1) ENSP00000411826.2:p.Pro1034GlnfsTer2
ENST00000435046.6:c.3098del (EIF4G1) ENSP00000404754.2:p.Pro1033GlnfsTer2
ENST00000441154.5:c.3197del (EIF4G1) ENSP00000399858.1:p.Pro1066GlnfsTer2
ENST00000442406.5:c.*3125del (EIF4G1) ENSP00000400351.1:n.*3125del
ENST00000444495.1:c.2106+182903del (EIF2B5) ENSP00000409142.1:n.2106+182903del
ENST00000482303.1:n.188del (EIF4G1)
NM_001194946.1:c.3707del (EIF4G1) NP_001181875.1:p.Pro1236GlnfsTer2
NM_001194947.1:c.3707del (EIF4G1) NP_001181876.1:p.Pro1236GlnfsTer2
NM_001291157.1:c.3566del (EIF4G1) NP_001278086.1:p.Pro1189GlnfsTer2
NM_004953.4:c.3101del (EIF4G1) NP_004944.3:p.Pro1034GlnfsTer2
NM_182917.4:c.3689del (EIF4G1) NP_886553.3:p.Pro1230GlnfsTer2
NM_198241.2:c.3686del (EIF4G1) NP_937884.1:p.Pro1229GlnfsTer2
NM_198242.2:c.3194del (EIF4G1) NP_937885.1:p.Pro1065GlnfsTer2
NM_198244.2:c.3425del (EIF4G1) NP_937887.1:p.Pro1142GlnfsTer2
NM_001194946.2:c.3707del (EIF4G1) NP_001181875.2:p.Pro1236GlnfsTer2
NM_001291157.2:c.3566del (EIF4G1) NP_001278086.2:p.Pro1189GlnfsTer2
NM_004953.5:c.3101del (EIF4G1) NP_004944.3:p.Pro1034GlnfsTer2
NM_198241.3:c.3686del (EIF4G1) MANE Select NP_937884.2:p.Pro1229GlnfsTer2
NM_198242.3:c.3194del (EIF4G1) NP_937885.1:p.Pro1065GlnfsTer2
NM_198244.3:c.3425del (EIF4G1) NP_937887.2:p.Pro1142GlnfsTer2
NM_001194947.2:c.3707del (EIF4G1) NP_001181876.2:p.Pro1236GlnfsTer2