Canonical Allele Identifier: CA347458

Gene: DVL1

Linked Data

• ClinVar Variation Id: 208045
• ClinVar RCV Id: RCV000195250 ; RCV003223617
• dbSNP Id: rs797044835
• MyVariant Identifiers: chr1:g.1273477del (hg19) ; chr1:g.1338097del (hg38)
• PubMed: PMID:25045061 ; PMID:25577943 ; PMID:25817014 ; PMID:25817016

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1338097del , CM000663.2:g.1338097del	GRCh38
NC_000001.10:g.1273477del , CM000663.1:g.1273477del	GRCh37
NC_000001.9:g.1263340del	NCBI36
NG_008048.1:g.16016del
NG_008048.2:g.16016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378888.10:c.1594del MANE Select	ENSP00000368166.5:p.Trp532GlyfsTer?
ENST00000378888.9:c.1594del	ENSP00000368166.5:p.Trp532GlyfsTer?
ENST00000378891.9:c.1519del	ENSP00000368169.5:p.Trp507GlyfsTer?
ENST00000610709.2:c.841del	ENSP00000480077.1:p.Trp281GlyfsTer?
ENST00000631679.1:c.625del	ENSP00000488181.1:p.Trp209GlyfsTer?
ENST00000632445.1:c.523del	ENSP00000488888.1:p.Trp175GlyfsTer?
NM_004421.2:c.1519del	NP_004412.2:p.Trp507GlyfsTer?
XM_005244731.2:c.1594del	XP_005244788.1:p.Trp532GlyfsTer?
XM_005244732.2:c.1594del	XP_005244789.1:p.Trp532GlyfsTer?
XM_005244733.2:c.1519del	XP_005244790.1:p.Trp507GlyfsTer?
NM_001330311.1:c.1594del	NP_001317240.1:p.Trp532GlyfsTer?
XM_005244732.4:c.1594del	XP_005244789.1:p.Trp532GlyfsTer?
XM_005244733.4:c.1519del	XP_005244790.1:p.Trp507GlyfsTer?
NM_001330311.2:c.1594del MANE Select	NP_001317240.1:p.Trp532GlyfsTer?
NM_004421.3:c.1519del	NP_004412.2:p.Trp507GlyfsTer?