Canonical Allele Identifier: CA2261592306

Gene: EFTUD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867734_44867736delinsAGT , CM000679.2:g.44867734_44867736delinsAGT	GRCh38
NC_000017.10:g.42945102_42945104delinsAGT , CM000679.1:g.42945102_42945104delinsAGT	GRCh37
NC_000017.9:g.40300628_40300630delinsAGT	NCBI36
NG_032674.1:g.36890_36892delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.1149+71_1149+73delinsACT MANE Select	ENSP00000392094.1:n.1149+71_1149+73delinsACT
ENST00000402521.7:c.1044+71_1044+73delinsACT	ENSP00000385873.2:n.1044+71_1044+73delinsACT
ENST00000426333.6:c.1149+71_1149+73delinsACT	ENSP00000392094.1:n.1149+71_1149+73delinsACT
ENST00000586654.5:n.204+71_204+73delinsACT
ENST00000590367.5:n.877+71_877+73delinsACT
ENST00000591382.5:c.1149+71_1149+73delinsACT	ENSP00000467805.1:n.1149+71_1149+73delinsACT
ENST00000591856.1:c.270+71_270+73delinsACT	ENSP00000468284.1:n.270+71_270+73delinsACT
ENST00000592576.5:c.1119+71_1119+73delinsACT	ENSP00000465058.1:n.1119+71_1119+73delinsACT
NM_001142605.1:c.1044+71_1044+73delinsACT	NP_001136077.1:n.1044+71_1044+73delinsACT
NM_001258353.1:c.1149+71_1149+73delinsACT	NP_001245282.1:n.1149+71_1149+73delinsACT
NM_001258354.1:c.1119+71_1119+73delinsACT	NP_001245283.1:n.1119+71_1119+73delinsACT
NM_004247.3:c.1149+71_1149+73delinsACT	NP_004238.3:n.1149+71_1149+73delinsACT
XR_934602.1:n.1234+71_1234+73delinsACT
XR_934602.3:n.1230+71_1230+73delinsACT
NM_004247.4:c.1149+71_1149+73delinsACT MANE Select	NP_004238.3:n.1149+71_1149+73delinsACT
NM_001142605.2:c.1044+71_1044+73delinsACT	NP_001136077.1:n.1044+71_1044+73delinsACT
NM_001258353.2:c.1149+71_1149+73delinsACT	NP_001245282.1:n.1149+71_1149+73delinsACT
NM_001258354.2:c.1119+71_1119+73delinsACT	NP_001245283.1:n.1119+71_1119+73delinsACT