Canonical Allele Identifier: CA2816995693
Gene: EEF1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63495738_63495750del , CM000682.2:g.63495738_63495750del GRCh38
NC_000020.10:g.62127091_62127103del , CM000682.1:g.62127091_62127103del GRCh37
NC_000020.9:g.61597535_61597547del NCBI36
NG_034083.1:g.8566_8578del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706948.1:c.324+106_324+118del ENSP00000516668.1:n.324+106_324+118del
ENST00000706949.1:c.324+106_324+118del ENSP00000516669.1:n.324+106_324+118del
ENST00000217182.6:c.324+106_324+118del MANE Select ENSP00000217182.3:n.324+106_324+118del
ENST00000298049.12:c.324+106_324+118del ENSP00000298049.8:n.324+106_324+118del
ENST00000642899.1:c.324+106_324+118del ENSP00000493767.1:n.324+106_324+118del
ENST00000645357.1:c.324+106_324+118del ENSP00000494971.1:n.324+106_324+118del
ENST00000645586.1:n.2893+106_2893+118del
ENST00000675519.1:c.*196+106_*196+118del ENSP00000501859.1:n.*196+106_*196+118del
ENST00000217182.4:c.324+106_324+118del ENSP00000217182.3:n.324+106_324+118del
ENST00000298049.11:c.324+106_324+118del ENSP00000298049.7:n.324+106_324+118del
NM_001958.3:c.324+106_324+118del NP_001949.1:n.324+106_324+118del
NM_001958.4:c.324+106_324+118del NP_001949.1:n.324+106_324+118del
NM_001958.5:c.324+106_324+118del MANE Select NP_001949.1:n.324+106_324+118del