Canonical Allele Identifier: CA746495643
Gene: EEF1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63488320_63488328dup , CM000682.2:g.63488320_63488328dup GRCh38
NC_000020.10:g.62119673_62119681dup , CM000682.1:g.62119673_62119681dup GRCh37
NC_000020.9:g.61590117_61590125dup NCBI36
NG_034083.1:g.16001_16009dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706948.1:c.1333_1341dup ENSP00000516668.1:p.Ala447_Gly448insGlnLysAla
ENST00000706949.1:c.1375_1380+3dup
ENST00000217182.6:c.1375_1383dup MANE Select ENSP00000217182.3:p.Ala461_Gly462insGlnLysAla
ENST00000298049.12:c.1350+25_1350+33dup ENSP00000298049.8:n.1350+25_1350+33dup
ENST00000675519.1:c.*1247_*1255dup ENSP00000501859.1:n.*1247_*1255dup
ENST00000217182.4:c.1375_1383dup ENSP00000217182.3:p.Ala461_Gly462insGlnLysAla
ENST00000298049.11:c.1375_1383dup ENSP00000298049.7:p.Ala461_Gly462insGlnLysAla
NM_001958.3:c.1375_1383dup NP_001949.1:p.Ala461_Gly462insGlnLysAla
NM_001958.4:c.1375_1383dup NP_001949.1:p.Ala461_Gly462insGlnLysAla
NM_001958.5:c.1375_1383dup MANE Select NP_001949.1:p.Ala461_Gly462insGlnLysAla