Canonical Allele Identifier: CA2638257320

Gene: EFTUD2

Linked Data

• gnomAD v4: 17-44886525-G-GAAGTTTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44886526_44886527insAGTTTCCA , CM000679.2:g.44886526_44886527insAGTTTCCA	GRCh38
NC_000017.10:g.42963894_42963895insAGTTTCCA , CM000679.1:g.42963894_42963895insAGTTTCCA	GRCh37
NC_000017.9:g.40319420_40319421insAGTTTCCA	NCBI36
NG_032674.1:g.18100_18101insGGAAACTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.271+59_271+60insGGAAACTT MANE Select	ENSP00000392094.1:n.271+59_271+60insGGAAA...
ENST00000402521.7:c.166+59_166+60insGGAAACTT	ENSP00000385873.2:n.166+59_166+60insGGAAA...
ENST00000426333.6:c.271+59_271+60insGGAAACTT	ENSP00000392094.1:n.271+59_271+60insGGAAA...
ENST00000588374.1:c.82-1192_82-1191insGGAAACTT	ENSP00000467639.1:n.82-1192_82-1191insGGA...
ENST00000589825.5:n.352+59_352+60insGGAAACTT
ENST00000591382.5:c.271+59_271+60insGGAAACTT	ENSP00000467805.1:n.271+59_271+60insGGAAA...
ENST00000592408.5:n.482+59_482+60insGGAAACTT
ENST00000592576.5:c.271+59_271+60insGGAAACTT	ENSP00000465058.1:n.271+59_271+60insGGAAA...
ENST00000592701.2:c.271+59_271+60insGGAAACTT	ENSP00000464908.1:n.271+59_271+60insGGAAA...
ENST00000593072.5:c.271+59_271+60insGGAAACTT	ENSP00000464882.1:n.271+59_271+60insGGAAA...
NM_001142605.1:c.166+59_166+60insGGAAACTT	NP_001136077.1:n.166+59_166+60insGGAAACTT...
NM_001258353.1:c.271+59_271+60insGGAAACTT	NP_001245282.1:n.271+59_271+60insGGAAACTT...
NM_001258354.1:c.271+59_271+60insGGAAACTT	NP_001245283.1:n.271+59_271+60insGGAAACTT...
NM_004247.3:c.271+59_271+60insGGAAACTT	NP_004238.3:n.271+59_271+60insGGAAACTT
XR_934602.1:n.356+59_356+60insGGAAACTT
XR_934602.3:n.352+59_352+60insGGAAACTT
NM_004247.4:c.271+59_271+60insGGAAACTT MANE Select	NP_004238.3:n.271+59_271+60insGGAAACTT
NM_001142605.2:c.166+59_166+60insGGAAACTT	NP_001136077.1:n.166+59_166+60insGGAAACTT...
NM_001258353.2:c.271+59_271+60insGGAAACTT	NP_001245282.1:n.271+59_271+60insGGAAACTT...
NM_001258354.2:c.271+59_271+60insGGAAACTT	NP_001245283.1:n.271+59_271+60insGGAAACTT...