Canonical Allele Identifier: CA2261600872

Gene: EFTUD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44886512_44886516delinsTAAGG , CM000679.2:g.44886512_44886516delinsTAAGG	GRCh38
NC_000017.10:g.42963880_42963884delinsTAAGG , CM000679.1:g.42963880_42963884delinsTAAGG	GRCh37
NC_000017.9:g.40319406_40319410delinsTAAGG	NCBI36
NG_032674.1:g.18110_18114delinsCCTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.271+69_271+73delinsCCTTA MANE Select	ENSP00000392094.1:n.271+69_271+73delinsCC...
ENST00000402521.7:c.166+69_166+73delinsCCTTA	ENSP00000385873.2:n.166+69_166+73delinsCC...
ENST00000426333.6:c.271+69_271+73delinsCCTTA	ENSP00000392094.1:n.271+69_271+73delinsCC...
ENST00000588374.1:c.82-1182_82-1178delinsCCTTA	ENSP00000467639.1:n.82-1182_82-1178delins...
ENST00000589825.5:n.352+69_352+73delinsCCTTA
ENST00000591382.5:c.271+69_271+73delinsCCTTA	ENSP00000467805.1:n.271+69_271+73delinsCC...
ENST00000592408.5:n.482+69_482+73delinsCCTTA
ENST00000592576.5:c.271+69_271+73delinsCCTTA	ENSP00000465058.1:n.271+69_271+73delinsCC...
ENST00000592701.2:c.271+69_271+73delinsCCTTA	ENSP00000464908.1:n.271+69_271+73delinsCC...
ENST00000593072.5:c.271+69_271+73delinsCCTTA	ENSP00000464882.1:n.271+69_271+73delinsCC...
NM_001142605.1:c.166+69_166+73delinsCCTTA	NP_001136077.1:n.166+69_166+73delinsCCTTA...
NM_001258353.1:c.271+69_271+73delinsCCTTA	NP_001245282.1:n.271+69_271+73delinsCCTTA...
NM_001258354.1:c.271+69_271+73delinsCCTTA	NP_001245283.1:n.271+69_271+73delinsCCTTA...
NM_004247.3:c.271+69_271+73delinsCCTTA	NP_004238.3:n.271+69_271+73delinsCCTTA
XR_934602.1:n.356+69_356+73delinsCCTTA
XR_934602.3:n.352+69_352+73delinsCCTTA
NM_004247.4:c.271+69_271+73delinsCCTTA MANE Select	NP_004238.3:n.271+69_271+73delinsCCTTA
NM_001142605.2:c.166+69_166+73delinsCCTTA	NP_001136077.1:n.166+69_166+73delinsCCTTA...
NM_001258353.2:c.271+69_271+73delinsCCTTA	NP_001245282.1:n.271+69_271+73delinsCCTTA...
NM_001258354.2:c.271+69_271+73delinsCCTTA	NP_001245283.1:n.271+69_271+73delinsCCTTA...