Canonical Allele Identifier: CA2638259787

Gene: EFTUD2

Linked Data

• gnomAD v4: 17-44855117-CAGGGGCCAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44855118_44855127del , CM000679.2:g.44855118_44855127del	GRCh38
NC_000017.10:g.42932486_42932495del , CM000679.1:g.42932486_42932495del	GRCh37
NC_000017.9:g.40288012_40288021del	NCBI36
NG_032674.1:g.49499_49508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2046-123_2046-114del MANE Select	ENSP00000392094.1:n.2046-123_2046-114del
ENST00000402521.7:c.1941-123_1941-114del	ENSP00000385873.2:n.1941-123_1941-114del
ENST00000426333.6:c.2046-123_2046-114del	ENSP00000392094.1:n.2046-123_2046-114del
ENST00000586276.5:n.1708-123_1708-114del
ENST00000588340.1:n.566-123_566-114del
ENST00000590124.5:c.48-123_48-114del	ENSP00000467249.1:n.48-123_48-114del
ENST00000590367.5:n.1774-123_1774-114del
ENST00000590977.5:n.654-123_654-114del
ENST00000591382.5:c.2046-123_2046-114del	ENSP00000467805.1:n.2046-123_2046-114del
ENST00000592576.5:c.2016-123_2016-114del	ENSP00000465058.1:n.2016-123_2016-114del
NM_001142605.1:c.1941-123_1941-114del	NP_001136077.1:n.1941-123_1941-114del
NM_001258353.1:c.2046-123_2046-114del	NP_001245282.1:n.2046-123_2046-114del
NM_001258354.1:c.2016-123_2016-114del	NP_001245283.1:n.2016-123_2016-114del
NM_004247.3:c.2046-123_2046-114del	NP_004238.3:n.2046-123_2046-114del
XR_934602.1:n.2131-123_2131-114del
XR_934602.3:n.2127-123_2127-114del
NM_004247.4:c.2046-123_2046-114del MANE Select	NP_004238.3:n.2046-123_2046-114del
NM_001142605.2:c.1941-123_1941-114del	NP_001136077.1:n.1941-123_1941-114del
NM_001258353.2:c.2046-123_2046-114del	NP_001245282.1:n.2046-123_2046-114del
NM_001258354.2:c.2016-123_2016-114del	NP_001245283.1:n.2016-123_2016-114del