Canonical Allele Identifier: CA2374824033
Gene: EEF1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63495815_63495816delinsAG , CM000682.2:g.63495815_63495816delinsAG GRCh38
NC_000020.10:g.62127168_62127169delinsAG , CM000682.1:g.62127168_62127169delinsAG GRCh37
NC_000020.9:g.61597612_61597613delinsAG NCBI36
NG_034083.1:g.8500_8501delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000706948.1:c.324+40_324+41delinsCT ENSP00000516668.1:n.324+40_324+41delinsCT
ENST00000706949.1:c.324+40_324+41delinsCT ENSP00000516669.1:n.324+40_324+41delinsCT
ENST00000217182.6:c.324+40_324+41delinsCT MANE Select ENSP00000217182.3:n.324+40_324+41delinsCT
ENST00000298049.12:c.324+40_324+41delinsCT ENSP00000298049.8:n.324+40_324+41delinsCT
ENST00000642899.1:c.324+40_324+41delinsCT ENSP00000493767.1:n.324+40_324+41delinsCT
ENST00000645357.1:c.324+40_324+41delinsCT ENSP00000494971.1:n.324+40_324+41delinsCT
ENST00000645586.1:n.2893+40_2893+41delinsCT
ENST00000675519.1:c.*196+40_*196+41delinsCT ENSP00000501859.1:n.*196+40_*196+41delinsCT
ENST00000217182.4:c.324+40_324+41delinsCT ENSP00000217182.3:n.324+40_324+41delinsCT
ENST00000298049.11:c.324+40_324+41delinsCT ENSP00000298049.7:n.324+40_324+41delinsCT
NM_001958.3:c.324+40_324+41delinsCT NP_001949.1:n.324+40_324+41delinsCT
NM_001958.4:c.324+40_324+41delinsCT NP_001949.1:n.324+40_324+41delinsCT
NM_001958.5:c.324+40_324+41delinsCT MANE Select NP_001949.1:n.324+40_324+41delinsCT