Canonical Allele Identifier: CA2638262812

Gene: EFTUD2

Linked Data

• gnomAD v4: 17-44867695-TACTTGACATAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867699_44867710del , CM000679.2:g.44867699_44867710del	GRCh38
NC_000017.10:g.42945067_42945078del , CM000679.1:g.42945067_42945078del	GRCh37
NC_000017.9:g.40300593_40300604del	NCBI36
NG_032674.1:g.36919_36930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.1149+100_1149+111del MANE Select	ENSP00000392094.1:n.1149+100_1149+111del
ENST00000402521.7:c.1044+100_1044+111del	ENSP00000385873.2:n.1044+100_1044+111del
ENST00000426333.6:c.1149+100_1149+111del	ENSP00000392094.1:n.1149+100_1149+111del
ENST00000586654.5:n.204+100_204+111del
ENST00000590367.5:n.877+100_877+111del
ENST00000591382.5:c.1149+100_1149+111del	ENSP00000467805.1:n.1149+100_1149+111del
ENST00000591856.1:c.270+100_270+111del	ENSP00000468284.1:n.270+100_270+111del
ENST00000592576.5:c.1119+100_1119+111del	ENSP00000465058.1:n.1119+100_1119+111del
NM_001142605.1:c.1044+100_1044+111del	NP_001136077.1:n.1044+100_1044+111del
NM_001258353.1:c.1149+100_1149+111del	NP_001245282.1:n.1149+100_1149+111del
NM_001258354.1:c.1119+100_1119+111del	NP_001245283.1:n.1119+100_1119+111del
NM_004247.3:c.1149+100_1149+111del	NP_004238.3:n.1149+100_1149+111del
XR_934602.1:n.1234+100_1234+111del
XR_934602.3:n.1230+100_1230+111del
NM_004247.4:c.1149+100_1149+111del MANE Select	NP_004238.3:n.1149+100_1149+111del
NM_001142605.2:c.1044+100_1044+111del	NP_001136077.1:n.1044+100_1044+111del
NM_001258353.2:c.1149+100_1149+111del	NP_001245282.1:n.1149+100_1149+111del
NM_001258354.2:c.1119+100_1119+111del	NP_001245283.1:n.1119+100_1119+111del