Allele Registry

Canonical Allele Identifier: CA10575568

Gene: EFTUD2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr17:g.44851709del

GRCh37 chr17:g.42929077del

Linked Data - NCBI & NCI

ClinVar Allele:

48562

ClinVar RCV:

RCV000033146

ClinVar Variation:

40048

dbSNP:

879253728

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44851710del , CM000679.2:g.44851710del	GRCh38
NC_000017.10:g.42929078del , CM000679.1:g.42929078del	GRCh37
NC_000017.9:g.40284604del	NCBI36
NG_032674.1:g.52917del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2823+1del
ENST00000402521.7:c.2718+1del
ENST00000426333.6:c.2823+1del
ENST00000586276.5:n.3118+1del
ENST00000589769.1:c.576+1del
ENST00000590124.5:c.576+1del
ENST00000590367.5:n.3184+1del
ENST00000590977.5:n.1969+1del
ENST00000591382.5:c.2823+1del
ENST00000592576.5:c.2793+1del
NM_001142605.1:c.2718+1del
NM_001258353.1:c.2823+1del
NM_001258354.1:c.2793+1del
NM_004247.3:c.2823+1del
XR_934602.1:n.2813+1del
XR_934602.3:n.2809+1del
NM_004247.4:c.2823+1del
NM_001142605.2:c.2718+1del
NM_001258353.2:c.2823+1del
NM_001258354.2:c.2793+1del

Search 100 bp 5'

Search 100 bp 3'