Canonical Allele Identifier: CA2653812313
Community Standard Title: NM_001958.5(EEF1A2):c.1265-23_1265-6dup
Gene: EEF1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63488439_63488456dup , CM000682.2:g.63488439_63488456dup GRCh38
NC_000020.10:g.62119792_62119809dup , CM000682.1:g.62119792_62119809dup GRCh37
NC_000020.9:g.61590236_61590253dup NCBI36
NG_034083.1:g.15868_15885dup

Transcript Alleles

HGVS Amino-acid Change
NM_001958.5:c.1265-23_1265-6dup MANE Select NP_001949.1:n.1265-23_1265-6dup
ENST00000217182.6:c.1265-23_1265-6dup MANE Select ENSP00000217182.3:n.1265-23_1265-6dup
NM_001958.3:c.1265-23_1265-6dup NP_001949.1:n.1265-23_1265-6dup
NM_001958.4:c.1265-23_1265-6dup NP_001949.1:n.1265-23_1265-6dup
ENST00000217182.4:c.1265-23_1265-6dup ENSP00000217182.3:n.1265-23_1265-6dup
ENST00000298049.11:c.1265-23_1265-6dup ENSP00000298049.7:n.1265-23_1265-6dup
ENST00000298049.12:c.1265-23_1265-6dup ENSP00000298049.8:n.1265-23_1265-6dup
ENST00000675519.1:c.*1137-23_*1137-6dup ENSP00000501859.1:n.*1137-23_*1137-6dup
ENST00000706948.1:c.1265-65_1265-48dup ENSP00000516668.1:n.1265-65_1265-48dup
ENST00000706949.1:c.1265-23_1265-6dup ENSP00000516669.1:n.1265-23_1265-6dup