Canonical Allele Identifier: CA2638259048

Gene: EFTUD2

Linked Data

• gnomAD v4: 17-44854791-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44854794del , CM000679.2:g.44854794del	GRCh38
NC_000017.10:g.42932162del , CM000679.1:g.42932162del	GRCh37
NC_000017.9:g.40287688del	NCBI36
NG_032674.1:g.49834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2133-110del MANE Select	ENSP00000392094.1:n.2133-110del
ENST00000402521.7:c.2028-110del	ENSP00000385873.2:n.2028-110del
ENST00000426333.6:c.2133-110del	ENSP00000392094.1:n.2133-110del
ENST00000586276.5:n.1795-110del
ENST00000590124.5:c.135-110del	ENSP00000467249.1:n.135-110del
ENST00000590367.5:n.1861-110del
ENST00000590977.5:n.741-110del
ENST00000591382.5:c.2133-110del	ENSP00000467805.1:n.2133-110del
ENST00000592576.5:c.2103-110del	ENSP00000465058.1:n.2103-110del
NM_001142605.1:c.2028-110del	NP_001136077.1:n.2028-110del
NM_001258353.1:c.2133-110del	NP_001245282.1:n.2133-110del
NM_001258354.1:c.2103-110del	NP_001245283.1:n.2103-110del
NM_004247.3:c.2133-110del	NP_004238.3:n.2133-110del
XR_934602.1:n.2218-110del
XR_934602.3:n.2214-110del
NM_004247.4:c.2133-110del MANE Select	NP_004238.3:n.2133-110del
NM_001142605.2:c.2028-110del	NP_001136077.1:n.2028-110del
NM_001258353.2:c.2133-110del	NP_001245282.1:n.2133-110del
NM_001258354.2:c.2103-110del	NP_001245283.1:n.2103-110del