Canonical Allele Identifier: CA548796073

Gene: EIF4G1 EIF2B5

Linked Data

• dbSNP Id: rs1251979013
• gnomAD v2: 3-184044688-A-AGCT
• gnomAD v4: 3-184326900-A-AGCT
• MyVariant Identifiers: chr3:g.184044688_184044689insGCT (hg19) ; chr3:g.184326900_184326901insGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184326901_184326903dup , CM000665.2:g.184326901_184326903dup	GRCh38
NC_000003.11:g.184044689_184044691dup , CM000665.1:g.184044689_184044691dup	GRCh37
NC_000003.10:g.185527383_185527385dup	NCBI36
NG_016850.1:g.17334_17336dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.3346_3348dup (EIF4G1) MANE Select	ENSP00000316879.5:p.Ala1116_Thr1117insAla
ENST00000435046.7:c.3280_3282dup (EIF4G1)	ENSP00000404754.3:p.Ala1094_Thr1095insAla
ENST00000676453.1:c.2693_2695dup (EIF4G1)	ENSP00000501695.1:n.2693_2695dup
ENST00000319274.10:c.2752_2754dup (EIF4G1)	ENSP00000323737.7:p.Ala918_Thr919insAla
ENST00000342981.8:c.3349_3351dup (EIF4G1)	ENSP00000343450.4:p.Ala1117_Thr1118insAla
ENST00000346169.6:c.3346_3348dup (EIF4G1)	ENSP00000316879.4:p.Ala1116_Thr1117insAla
ENST00000350481.9:c.2854_2856dup (EIF4G1)	ENSP00000317600.8:p.Ala952_Thr953insAla
ENST00000352767.7:c.3367_3369dup (EIF4G1)	ENSP00000338020.4:p.Ala1123_Thr1124insAla
ENST00000382330.7:c.3367_3369dup (EIF4G1)	ENSP00000371767.3:p.Ala1123_Thr1124insAla
ENST00000392537.6:c.3085_3087dup (EIF4G1)	ENSP00000376320.2:p.Ala1029_Thr1030insAla
ENST00000411531.5:c.3229_3231dup (EIF4G1)	ENSP00000395974.1:p.Ala1077_Thr1078insAla
ENST00000414031.5:c.3226_3228dup (EIF4G1)	ENSP00000391935.1:p.Ala1076_Thr1077insAla
ENST00000424196.5:c.3367_3369dup (EIF4G1)	ENSP00000416255.1:p.Ala1123_Thr1124insAla
ENST00000427845.5:c.3088_3090dup (EIF4G1)	ENSP00000407682.1:p.Ala1030_Thr1031insAla
ENST00000434061.6:c.2761_2763dup (EIF4G1)	ENSP00000411826.2:p.Ala921_Thr922insAla
ENST00000435046.6:c.2758_2760dup (EIF4G1)	ENSP00000404754.2:p.Ala920_Thr921insAla
ENST00000441154.5:c.2857_2859dup (EIF4G1)	ENSP00000399858.1:p.Ala953_Thr954insAla
ENST00000442406.5:c.*2785_*2787dup (EIF4G1)	ENSP00000400351.1:n.*2785_*2787dup
ENST00000444495.1:c.2106+182194_2106+182196dup (EIF2B5)	ENSP00000409142.1:n.2106+182194_2106+182196dup
ENST00000448284.1:c.507_509dup (EIF4G1)
ENST00000466311.1:n.566_568dup (EIF4G1)
NM_001194946.1:c.3367_3369dup (EIF4G1)	NP_001181875.1:p.Ala1123_Thr1124insAla
NM_001194947.1:c.3367_3369dup (EIF4G1)	NP_001181876.1:p.Ala1123_Thr1124insAla
NM_001291157.1:c.3226_3228dup (EIF4G1)	NP_001278086.1:p.Ala1076_Thr1077insAla
NM_004953.4:c.2761_2763dup (EIF4G1)	NP_004944.3:p.Ala921_Thr922insAla
NM_182917.4:c.3349_3351dup (EIF4G1)	NP_886553.3:p.Ala1117_Thr1118insAla
NM_198241.2:c.3346_3348dup (EIF4G1)	NP_937884.1:p.Ala1116_Thr1117insAla
NM_198242.2:c.2854_2856dup (EIF4G1)	NP_937885.1:p.Ala952_Thr953insAla
NM_198244.2:c.3085_3087dup (EIF4G1)	NP_937887.1:p.Ala1029_Thr1030insAla
NM_001194946.2:c.3367_3369dup (EIF4G1)	NP_001181875.2:p.Ala1123_Thr1124insAla
NM_001291157.2:c.3226_3228dup (EIF4G1)	NP_001278086.2:p.Ala1076_Thr1077insAla
NM_004953.5:c.2761_2763dup (EIF4G1)	NP_004944.3:p.Ala921_Thr922insAla
NM_198241.3:c.3346_3348dup (EIF4G1) MANE Select	NP_937884.2:p.Ala1116_Thr1117insAla
NM_198242.3:c.2854_2856dup (EIF4G1)	NP_937885.1:p.Ala952_Thr953insAla
NM_198244.3:c.3085_3087dup (EIF4G1)	NP_937887.2:p.Ala1029_Thr1030insAla
NM_001194947.2:c.3367_3369dup (EIF4G1)	NP_001181876.2:p.Ala1123_Thr1124insAla