Canonical Allele Identifier: CA2732168

Gene: EIF4G1 EIF2B5

Linked Data

• dbSNP Id: rs750642842
• ExAC: 3:184039742 TGGAAGAAGAAGAAGAAGA / T
• gnomAD v2: 3-184039742-TGGAAGAAGAAGAAGAAGA-T
• gnomAD v3: 3-184321954-TGGAAGAAGAAGAAGAAGA-T
• gnomAD v4: 3-184321954-TGGAAGAAGAAGAAGAAGA-T
• MyVariant Identifiers: chr3:g.184039743_184039760del (hg19) ; chr3:g.184321955_184321972del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184321963_184321980del , CM000665.2:g.184321963_184321980del	GRCh38
NC_000003.11:g.184039751_184039768del , CM000665.1:g.184039751_184039768del	GRCh37
NC_000003.10:g.185522445_185522462del	NCBI36
NG_016850.1:g.12396_12413del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.1379_1396del (EIF4G1) MANE Select	ENSP00000316879.5:p.Glu460_Glu465del
ENST00000435046.7:c.1313_1330del (EIF4G1)	ENSP00000404754.3:p.Glu438_Glu443del
ENST00000676453.1:c.749_766del (EIF4G1)	ENSP00000501695.1:p.Glu250_Glu255del
ENST00000319274.10:c.791_808del (EIF4G1)	ENSP00000323737.7:p.Glu264_Glu269del
ENST00000342981.8:c.1379_1396del (EIF4G1)	ENSP00000343450.4:p.Glu460_Glu465del
ENST00000346169.6:c.1379_1396del (EIF4G1)	ENSP00000316879.4:p.Glu460_Glu465del
ENST00000350481.9:c.887_904del (EIF4G1)	ENSP00000317600.8:p.Glu296_Glu301del
ENST00000352767.7:c.1400_1417del (EIF4G1)	ENSP00000338020.4:p.Glu467_Glu472del
ENST00000382330.7:c.1400_1417del (EIF4G1)	ENSP00000371767.3:p.Glu467_Glu472del
ENST00000392537.6:c.1118_1135del (EIF4G1)	ENSP00000376320.2:p.Glu373_Glu378del
ENST00000411531.5:c.1259_1276del (EIF4G1)	ENSP00000395974.1:p.Glu420_Glu425del
ENST00000413967.5:c.*886_*903del (EIF4G1)	ENSP00000390755.1:n.*886_*903del
ENST00000414031.5:c.1259_1276del (EIF4G1)	ENSP00000391935.1:p.Glu420_Glu425del
ENST00000421110.5:c.1400_1417del (EIF4G1)	ENSP00000413159.1:p.Glu467_Glu472del
ENST00000424196.5:c.1400_1417del (EIF4G1)	ENSP00000416255.1:p.Glu467_Glu472del
ENST00000426123.5:c.1202_1219del (EIF4G1)	ENSP00000403269.1:p.Glu401_Glu406del
ENST00000427845.5:c.1118_1135del (EIF4G1)	ENSP00000407682.1:p.Glu373_Glu378del
ENST00000434061.6:c.791_808del (EIF4G1)	ENSP00000411826.2:p.Glu264_Glu269del
ENST00000435046.6:c.791_808del (EIF4G1)	ENSP00000404754.2:p.Glu264_Glu269del
ENST00000441154.5:c.887_904del (EIF4G1)	ENSP00000399858.1:p.Glu296_Glu301del
ENST00000442406.5:c.*818_*835del (EIF4G1)	ENSP00000400351.1:n.*818_*835del
ENST00000444495.1:c.2106+177256_2106+177273del (EIF2B5)	ENSP00000409142.1:n.2106+177256_2106+177273del
ENST00000444861.5:c.887_904del (EIF4G1)	ENSP00000398145.1:p.Glu296_Glu301del
ENST00000450424.5:c.1379_1396del (EIF4G1)	ENSP00000391412.1:p.Glu460_Glu465del
ENST00000457456.5:c.791_808del (EIF4G1)	ENSP00000399969.1:p.Glu264_Glu269del
NM_001194946.1:c.1400_1417del (EIF4G1)	NP_001181875.1:p.Glu467_Glu472del
NM_001194947.1:c.1400_1417del (EIF4G1)	NP_001181876.1:p.Glu467_Glu472del
NM_001291157.1:c.1259_1276del (EIF4G1)	NP_001278086.1:p.Glu420_Glu425del
NM_004953.4:c.791_808del (EIF4G1)	NP_004944.3:p.Glu264_Glu269del
NM_182917.4:c.1379_1396del (EIF4G1)	NP_886553.3:p.Glu460_Glu465del
NM_198241.2:c.1379_1396del (EIF4G1)	NP_937884.1:p.Glu460_Glu465del
NM_198242.2:c.887_904del (EIF4G1)	NP_937885.1:p.Glu296_Glu301del
NM_198244.2:c.1118_1135del (EIF4G1)	NP_937887.1:p.Glu373_Glu378del
NM_001194946.2:c.1400_1417del (EIF4G1)	NP_001181875.2:p.Glu467_Glu472del
NM_001291157.2:c.1259_1276del (EIF4G1)	NP_001278086.2:p.Glu420_Glu425del
NM_004953.5:c.791_808del (EIF4G1)	NP_004944.3:p.Glu264_Glu269del
NM_198241.3:c.1379_1396del (EIF4G1) MANE Select	NP_937884.2:p.Glu460_Glu465del
NM_198242.3:c.887_904del (EIF4G1)	NP_937885.1:p.Glu296_Glu301del
NM_198244.3:c.1118_1135del (EIF4G1)	NP_937887.2:p.Glu373_Glu378del
NM_001194947.2:c.1400_1417del (EIF4G1)	NP_001181876.2:p.Glu467_Glu472del