Canonical Allele Identifier: CA2261586552

Gene: EFTUD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44855017_44855018delinsGA , CM000679.2:g.44855017_44855018delinsGA	GRCh38
NC_000017.10:g.42932385_42932386delinsGA , CM000679.1:g.42932385_42932386delinsGA	GRCh37
NC_000017.9:g.40287911_40287912delinsGA	NCBI36
NG_032674.1:g.49608_49609delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.2046-14_2046-13delinsTC MANE Select	ENSP00000392094.1:n.2046-14_2046-13delins...
ENST00000402521.7:c.1941-14_1941-13delinsTC	ENSP00000385873.2:n.1941-14_1941-13delins...
ENST00000426333.6:c.2046-14_2046-13delinsTC	ENSP00000392094.1:n.2046-14_2046-13delins...
ENST00000586276.5:n.1708-14_1708-13delinsTC
ENST00000588340.1:n.566-14_566-13delinsTC
ENST00000590124.5:c.48-14_48-13delinsTC	ENSP00000467249.1:n.48-14_48-13delinsTC
ENST00000590367.5:n.1774-14_1774-13delinsTC
ENST00000590977.5:n.654-14_654-13delinsTC
ENST00000591382.5:c.2046-14_2046-13delinsTC	ENSP00000467805.1:n.2046-14_2046-13delins...
ENST00000592576.5:c.2016-14_2016-13delinsTC	ENSP00000465058.1:n.2016-14_2016-13delins...
NM_001142605.1:c.1941-14_1941-13delinsTC	NP_001136077.1:n.1941-14_1941-13delinsTC
NM_001258353.1:c.2046-14_2046-13delinsTC	NP_001245282.1:n.2046-14_2046-13delinsTC
NM_001258354.1:c.2016-14_2016-13delinsTC	NP_001245283.1:n.2016-14_2016-13delinsTC
NM_004247.3:c.2046-14_2046-13delinsTC	NP_004238.3:n.2046-14_2046-13delinsTC
XR_934602.1:n.2131-14_2131-13delinsTC
XR_934602.3:n.2127-14_2127-13delinsTC
NM_004247.4:c.2046-14_2046-13delinsTC MANE Select	NP_004238.3:n.2046-14_2046-13delinsTC
NM_001142605.2:c.1941-14_1941-13delinsTC	NP_001136077.1:n.1941-14_1941-13delinsTC
NM_001258353.2:c.2046-14_2046-13delinsTC	NP_001245282.1:n.2046-14_2046-13delinsTC
NM_001258354.2:c.2016-14_2016-13delinsTC	NP_001245283.1:n.2016-14_2016-13delinsTC