Canonical Allele Identifier: CA10586040
Gene: EEF1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63488320_63488328del , CM000682.2:g.63488320_63488328del GRCh38
NC_000020.10:g.62119673_62119681del , CM000682.1:g.62119673_62119681del GRCh37
NC_000020.9:g.61590117_61590125del NCBI36
NG_034083.1:g.16001_16009del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706948.1:c.1333_1341del ENSP00000516668.1:p.Gln445_Ala447del
ENST00000706949.1:c.1375_1380+3del
ENST00000217182.6:c.1375_1383del MANE Select ENSP00000217182.3:p.Gln459_Ala461del
ENST00000298049.12:c.1350+25_1350+33del ENSP00000298049.8:n.1350+25_1350+33del
ENST00000675519.1:c.*1247_*1255del ENSP00000501859.1:n.*1247_*1255del
ENST00000217182.4:c.1375_1383del ENSP00000217182.3:p.Gln459_Ala461del
ENST00000298049.11:c.1375_1383del ENSP00000298049.7:p.Gln459_Ala461del
NM_001958.3:c.1375_1383del NP_001949.1:p.Gln459_Ala461del
NM_001958.4:c.1375_1383del NP_001949.1:p.Gln459_Ala461del
NM_001958.5:c.1375_1383del MANE Select NP_001949.1:p.Gln459_Ala461del