Canonical Allele Identifier: CA2695226148

Gene: EFTUD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44859901_44859906delinsCTCACCA , CM000679.2:g.44859901_44859906delinsCTCACCA	GRCh38
NC_000017.10:g.42937269_42937274delinsCTCACCA , CM000679.1:g.42937269_42937274delinsCTCACCA	GRCh37
NC_000017.9:g.40292795_40292800delinsCTCACCA	NCBI36
NG_032674.1:g.44720_44725delinsTGGTGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.1859_1860+4delinsTGGTGAG
ENST00000402521.7:c.1754_1755+4delinsTGGTGAG
ENST00000426333.6:c.1859_1860+4delinsTGGTGAG
ENST00000586276.5:n.1521_1522+4delinsTGGTGAG
ENST00000590367.5:n.1587_1588+4delinsTGGTGAG
ENST00000591382.5:c.1859_1860+4delinsTGGTGAG
ENST00000592576.5:c.1829_1830+4delinsTGGTGAG
NM_001142605.1:c.1754_1755+4delinsTGGTGAG
NM_001258353.1:c.1859_1860+4delinsTGGTGAG
NM_001258354.1:c.1829_1830+4delinsTGGTGAG
NM_004247.3:c.1859_1860+4delinsTGGTGAG
XR_934602.1:n.1944_1945+4delinsTGGTGAG
XR_934602.3:n.1940_1941+4delinsTGGTGAG
NM_004247.4:c.1859_1860+4delinsTGGTGAG
NM_001142605.2:c.1754_1755+4delinsTGGTGAG
NM_001258353.2:c.1859_1860+4delinsTGGTGAG
NM_001258354.2:c.1829_1830+4delinsTGGTGAG