Canonical Allele Identifier: CA2588321567

Gene: EIF3G

Linked Data

• gnomAD v4: 19-10115580-A-AAGCCCTGTGGAGGATGCTGATGAAGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10115581_10115582insGCCCTGTGGAGGATGCTGATGAAGGCGA , CM000681.2:g.10115581_10115582insGCCCTGTGGAGGATGCTGATGAAGGCGA	GRCh38
NC_000019.9:g.10226257_10226258insGCCCTGTGGAGGATGCTGATGAAGGCGA , CM000681.1:g.10226257_10226258insGCCCTGTGGAGGATGCTGATGAAGGCGA	GRCh37
NC_000019.8:g.10087257_10087258insGCCCTGTGGAGGATGCTGATGAAGGCGA	NCBI36
NG_047007.1:g.9061_9062insGCCCTGTGGAGGATGCTGATGAAGGCGA
NG_051197.1:g.9344_9345insCGCCTTCATCAGCATCCTCCACAGGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253108.9:c.845_846insCGCCTTCATCAGCATCCTCCACAGGGCT MANE Select	ENSP00000253108.3:p.Phe287IlefsTer?
ENST00000253108.8:c.845_846insCGCCTTCATCAGCATCCTCCACAGGGCT	ENSP00000253108.3:p.Phe287IlefsTer?
ENST00000589454.5:c.821_822insCGCCTTCATCAGCATCCTCCACAGGGCT	ENSP00000466860.1:p.Phe279IlefsTer?
ENST00000590158.1:n.864_865insCGCCTTCATCAGCATCCTCCACAGGGCT
ENST00000593054.5:c.239_240insCGCCTTCATCAGCATCCTCCACAGGGCT	ENSP00000467187.1:p.Phe85IlefsTer?
NM_003755.3:c.845_846insCGCCTTCATCAGCATCCTCCACAGGGCT	NP_003746.2:p.Phe287IlefsTer?
NM_003755.4:c.845_846insCGCCTTCATCAGCATCCTCCACAGGGCT	NP_003746.2:p.Phe287IlefsTer?
NM_003755.5:c.845_846insCGCCTTCATCAGCATCCTCCACAGGGCT MANE Select	NP_003746.2:p.Phe287IlefsTer?