Canonical Allele Identifier: CA2261588890

Gene: EFTUD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44859902_44859903delinsTA , CM000679.2:g.44859902_44859903delinsTA	GRCh38
NC_000017.10:g.42937270_42937271delinsTA , CM000679.1:g.42937270_42937271delinsTA	GRCh37
NC_000017.9:g.40292796_40292797delinsTA	NCBI36
NG_032674.1:g.44723_44724delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.1860+2_1860+3delinsTA MANE Select	ENSP00000392094.1:n.1860+2_1860+3delinsTA
ENST00000402521.7:c.1755+2_1755+3delinsTA	ENSP00000385873.2:n.1755+2_1755+3delinsTA
ENST00000426333.6:c.1860+2_1860+3delinsTA	ENSP00000392094.1:n.1860+2_1860+3delinsTA
ENST00000586276.5:n.1522+2_1522+3delinsTA
ENST00000590367.5:n.1588+2_1588+3delinsTA
ENST00000591382.5:c.1860+2_1860+3delinsTA	ENSP00000467805.1:n.1860+2_1860+3delinsTA
ENST00000592576.5:c.1830+2_1830+3delinsTA	ENSP00000465058.1:n.1830+2_1830+3delinsTA
NM_001142605.1:c.1755+2_1755+3delinsTA	NP_001136077.1:n.1755+2_1755+3delinsTA
NM_001258353.1:c.1860+2_1860+3delinsTA	NP_001245282.1:n.1860+2_1860+3delinsTA
NM_001258354.1:c.1830+2_1830+3delinsTA	NP_001245283.1:n.1830+2_1830+3delinsTA
NM_004247.3:c.1860+2_1860+3delinsTA	NP_004238.3:n.1860+2_1860+3delinsTA
XR_934602.1:n.1945+2_1945+3delinsTA
XR_934602.3:n.1941+2_1941+3delinsTA
NM_004247.4:c.1860+2_1860+3delinsTA MANE Select	NP_004238.3:n.1860+2_1860+3delinsTA
NM_001142605.2:c.1755+2_1755+3delinsTA	NP_001136077.1:n.1755+2_1755+3delinsTA
NM_001258353.2:c.1860+2_1860+3delinsTA	NP_001245282.1:n.1860+2_1860+3delinsTA
NM_001258354.2:c.1830+2_1830+3delinsTA	NP_001245283.1:n.1830+2_1830+3delinsTA