Canonical Allele Identifier: CA2505928610
Gene: EEF1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63495940del , CM000682.2:g.63495940del GRCh38
NC_000020.10:g.62127293del , CM000682.1:g.62127293del GRCh37
NC_000020.9:g.61597737del NCBI36
NG_034083.1:g.8376del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706948.1:c.240del ENSP00000516668.1:p.Phe80LeufsTer23
ENST00000706949.1:c.240del ENSP00000516669.1:p.Phe80LeufsTer23
ENST00000217182.6:c.240del MANE Select ENSP00000217182.3:p.Phe80LeufsTer23
ENST00000298049.12:c.240del ENSP00000298049.8:p.Phe80LeufsTer23
ENST00000642899.1:c.240del ENSP00000493767.1:p.Phe80LeufsTer23
ENST00000645357.1:c.240del ENSP00000494971.1:p.Phe80LeufsTer23
ENST00000645586.1:n.2809del
ENST00000646335.1:c.240del ENSP00000494752.1:p.Phe80LeufsTer23
ENST00000675519.1:c.*112del ENSP00000501859.1:n.*112del
ENST00000217182.4:c.240del ENSP00000217182.3:p.Phe80LeufsTer23
ENST00000298049.11:c.240del ENSP00000298049.7:p.Phe80LeufsTer23
NM_001958.3:c.240del NP_001949.1:p.Phe80LeufsTer23
NM_001958.4:c.240del NP_001949.1:p.Phe80LeufsTer23
NM_001958.5:c.240del MANE Select NP_001949.1:p.Phe80LeufsTer23