Canonical Allele Identifier: CA356446

Gene: DVL3 EIF2B5

Linked Data

• ClinVar Variation Id: 219222
• ClinVar RCV Id: RCV000208671 ; RCV000210482 ; RCV003126597
• dbSNP Id: rs869025219
• MyVariant Identifiers: chr3:g.183888141del (hg19) ; chr3:g.184170353del (hg38)
• PubMed: PMID:26924530

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184170353del , CM000665.2:g.184170353del	GRCh38
NC_000003.11:g.183888141del , CM000665.1:g.183888141del	GRCh37
NC_000003.10:g.185370835del	NCBI36
NG_046860.1:g.20043del

Transcript Alleles

HGVS	Amino-acid change
ENST00000313143.9:c.1749del (DVL3) MANE Select	ENSP00000316054.3:p.Ser583ArgfsTer?
ENST00000431765.6:c.1698del (DVL3)	ENSP00000405885.1:p.Ser566ArgfsTer?
ENST00000649847.1:c.1075del (DVL3)	ENSP00000497654.1:n.1075del
ENST00000313143.7:c.1749del (DVL3)	ENSP00000316054.3:p.Ser583ArgfsTer?
ENST00000431765.5:c.1698del (DVL3)	ENSP00000405885.1:p.Ser566ArgfsTer?
ENST00000444495.1:c.2106+25646del (EIF2B5)	ENSP00000409142.1:n.2106+25646del
ENST00000478247.1:n.1749del (DVL3)
NM_004423.3:c.1749del (DVL3)	NP_004414.3:p.Ser583ArgfsTer?
XM_005247172.1:c.1749del (DVL3)	XP_005247229.1:p.Ser583ArgfsTer?
XM_011512513.1:c.1245del (DVL3)	XP_011510815.1:p.Ser415ArgfsTer?
NM_004423.4:c.1749del (DVL3) MANE Select	NP_004414.3:p.Ser583ArgfsTer?
XM_005247172.2:c.1749del (DVL3)	XP_005247229.1:p.Ser583ArgfsTer?
XM_011512513.2:c.1245del (DVL3)	XP_011510815.1:p.Ser415ArgfsTer?