Canonical Allele Identifier: CA2261592395

Gene: EFTUD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867931_44867936delinsGGAAAA , CM000679.2:g.44867931_44867936delinsGGAAAA	GRCh38
NC_000017.10:g.42945299_42945304delinsGGAAAA , CM000679.1:g.42945299_42945304delinsGGAAAA	GRCh37
NC_000017.9:g.40300825_40300830delinsGGAAAA	NCBI36
NG_032674.1:g.36690_36695delinsTTTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.1059-39_1059-34delinsTTTTCC MANE Select	ENSP00000392094.1:n.1059-39_1059-34delinsTTTTCC
ENST00000402521.7:c.954-39_954-34delinsTTTTCC	ENSP00000385873.2:n.954-39_954-34delinsTTTTCC
ENST00000426333.6:c.1059-39_1059-34delinsTTTTCC	ENSP00000392094.1:n.1059-39_1059-34delinsTTTTCC
ENST00000586654.5:n.114-39_114-34delinsTTTTCC
ENST00000590367.5:n.787-39_787-34delinsTTTTCC
ENST00000591382.5:c.1059-39_1059-34delinsTTTTCC	ENSP00000467805.1:n.1059-39_1059-34delinsTTTTCC
ENST00000591856.1:c.180-39_180-34delinsTTTTCC	ENSP00000468284.1:n.180-39_180-34delinsTTTTCC
ENST00000592576.5:c.1029-39_1029-34delinsTTTTCC	ENSP00000465058.1:n.1029-39_1029-34delinsTTTTCC
NM_001142605.1:c.954-39_954-34delinsTTTTCC	NP_001136077.1:n.954-39_954-34delinsTTTTCC
NM_001258353.1:c.1059-39_1059-34delinsTTTTCC	NP_001245282.1:n.1059-39_1059-34delinsTTTTCC
NM_001258354.1:c.1029-39_1029-34delinsTTTTCC	NP_001245283.1:n.1029-39_1029-34delinsTTTTCC
NM_004247.3:c.1059-39_1059-34delinsTTTTCC	NP_004238.3:n.1059-39_1059-34delinsTTTTCC
XR_934602.1:n.1144-39_1144-34delinsTTTTCC
XR_934602.3:n.1140-39_1140-34delinsTTTTCC
NM_004247.4:c.1059-39_1059-34delinsTTTTCC MANE Select	NP_004238.3:n.1059-39_1059-34delinsTTTTCC
NM_001142605.2:c.954-39_954-34delinsTTTTCC	NP_001136077.1:n.954-39_954-34delinsTTTTCC
NM_001258353.2:c.1059-39_1059-34delinsTTTTCC	NP_001245282.1:n.1059-39_1059-34delinsTTTTCC
NM_001258354.2:c.1029-39_1029-34delinsTTTTCC	NP_001245283.1:n.1029-39_1029-34delinsTTTTCC