Canonical Allele Identifier: CA2732179

Gene: EIF4G1 EIF2B5

Linked Data

• ClinVar Variation Id: 1209961
• ClinVar RCV Id: RCV001579598 ; RCV003910905
• dbSNP Id: rs111659103
• ExAC: 3:184039766 AAGGAGAAGC / A
• gnomAD v2: 3-184039766-AAGGAGAAGC-A
• gnomAD v3: 3-184321978-AAGGAGAAGC-A
• gnomAD v4: 3-184321978-AAGGAGAAGC-A
• COSMIC: COSM5826221
• MyVariant Identifiers: chr3:g.184039767_184039775del (hg19) ; chr3:g.184321980_184321988del (hg38) ; chr3:g.184321979_184321987del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184321997_184322005del , CM000665.2:g.184321997_184322005del	GRCh38
NC_000003.11:g.184039785_184039793del , CM000665.1:g.184039785_184039793del	GRCh37
NC_000003.10:g.185522479_185522487del	NCBI36
NG_016850.1:g.12430_12438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346169.7:c.1413_1421del (EIF4G1) MANE Select	ENSP00000316879.5:p.Gly472_Ala474del
ENST00000435046.7:c.1347_1355del (EIF4G1)	ENSP00000404754.3:p.Gly450_Ala452del
ENST00000676453.1:c.783_791del (EIF4G1)	ENSP00000501695.1:p.Gly262_Ala264del
ENST00000319274.10:c.825_833del (EIF4G1)	ENSP00000323737.7:p.Gly276_Ala278del
ENST00000342981.8:c.1413_1421del (EIF4G1)	ENSP00000343450.4:p.Gly472_Ala474del
ENST00000346169.6:c.1413_1421del (EIF4G1)	ENSP00000316879.4:p.Gly472_Ala474del
ENST00000350481.9:c.921_929del (EIF4G1)	ENSP00000317600.8:p.Gly308_Ala310del
ENST00000352767.7:c.1434_1442del (EIF4G1)	ENSP00000338020.4:p.Gly479_Ala481del
ENST00000382330.7:c.1434_1442del (EIF4G1)	ENSP00000371767.3:p.Gly479_Ala481del
ENST00000392537.6:c.1152_1160del (EIF4G1)	ENSP00000376320.2:p.Gly385_Ala387del
ENST00000411531.5:c.1293_1301del (EIF4G1)	ENSP00000395974.1:p.Gly432_Ala434del
ENST00000413967.5:c.*920_*928del (EIF4G1)	ENSP00000390755.1:n.*920_*928del
ENST00000414031.5:c.1293_1301del (EIF4G1)	ENSP00000391935.1:p.Gly432_Ala434del
ENST00000421110.5:c.1434_1442del (EIF4G1)	ENSP00000413159.1:p.Gly479_Ala481del
ENST00000424196.5:c.1434_1442del (EIF4G1)	ENSP00000416255.1:p.Gly479_Ala481del
ENST00000426123.5:c.1236_1244del (EIF4G1)	ENSP00000403269.1:p.Gly413_Ala415del
ENST00000427845.5:c.1152_1160del (EIF4G1)	ENSP00000407682.1:p.Gly385_Ala387del
ENST00000434061.6:c.825_833del (EIF4G1)	ENSP00000411826.2:p.Gly276_Ala278del
ENST00000435046.6:c.825_833del (EIF4G1)	ENSP00000404754.2:p.Gly276_Ala278del
ENST00000441154.5:c.921_929del (EIF4G1)	ENSP00000399858.1:p.Gly308_Ala310del
ENST00000442406.5:c.*852_*860del (EIF4G1)	ENSP00000400351.1:n.*852_*860del
ENST00000444495.1:c.2106+177290_2106+177298del (EIF2B5)	ENSP00000409142.1:n.2106+177290_2106+177298del
ENST00000444861.5:c.921_929del (EIF4G1)	ENSP00000398145.1:p.Gly308_Ala310del
ENST00000450424.5:c.1413_1421del (EIF4G1)	ENSP00000391412.1:p.Gly472_Ala474del
ENST00000457456.5:c.825_833del (EIF4G1)	ENSP00000399969.1:p.Gly276_Ala278del
NM_001194946.1:c.1434_1442del (EIF4G1)	NP_001181875.1:p.Gly479_Ala481del
NM_001194947.1:c.1434_1442del (EIF4G1)	NP_001181876.1:p.Gly479_Ala481del
NM_001291157.1:c.1293_1301del (EIF4G1)	NP_001278086.1:p.Gly432_Ala434del
NM_004953.4:c.825_833del (EIF4G1)	NP_004944.3:p.Gly276_Ala278del
NM_182917.4:c.1413_1421del (EIF4G1)	NP_886553.3:p.Gly472_Ala474del
NM_198241.2:c.1413_1421del (EIF4G1)	NP_937884.1:p.Gly472_Ala474del
NM_198242.2:c.921_929del (EIF4G1)	NP_937885.1:p.Gly308_Ala310del
NM_198244.2:c.1152_1160del (EIF4G1)	NP_937887.1:p.Gly385_Ala387del
NM_001194946.2:c.1434_1442del (EIF4G1)	NP_001181875.2:p.Gly479_Ala481del
NM_001291157.2:c.1293_1301del (EIF4G1)	NP_001278086.2:p.Gly432_Ala434del
NM_004953.5:c.825_833del (EIF4G1)	NP_004944.3:p.Gly276_Ala278del
NM_198241.3:c.1413_1421del (EIF4G1) MANE Select	NP_937884.2:p.Gly472_Ala474del
NM_198242.3:c.921_929del (EIF4G1)	NP_937885.1:p.Gly308_Ala310del
NM_198244.3:c.1152_1160del (EIF4G1)	NP_937887.2:p.Gly385_Ala387del
NM_001194947.2:c.1434_1442del (EIF4G1)	NP_001181876.2:p.Gly479_Ala481del