Canonical Allele Identifier: CA2695226144

Gene: EFTUD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44855005del , CM000679.2:g.44855005del	GRCh38
NC_000017.10:g.42932373del , CM000679.1:g.42932373del	GRCh37
NC_000017.9:g.40287899del	NCBI36
NG_032674.1:g.49622del

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.2046del
ENST00000402521.7:c.1941del
ENST00000426333.6:c.2046del
ENST00000586276.5:n.1708del
ENST00000588340.1:n.566del
ENST00000590124.5:c.48del
ENST00000590367.5:n.1774del
ENST00000590977.5:n.654del
ENST00000591382.5:c.2046del
ENST00000592576.5:c.2016del
NM_001142605.1:c.1941del
NM_001258353.1:c.2046del
NM_001258354.1:c.2016del
NM_004247.3:c.2046del
XR_934602.1:n.2131del
XR_934602.3:n.2127del
NM_004247.4:c.2046del
NM_001142605.2:c.1941del
NM_001258353.2:c.2046del
NM_001258354.2:c.2016del