Canonical Allele Identifier: CA2739271830

Gene: VWF

Linked Data

• ClinVar Variation Id: 2920919
• ClinVar RCV Id: RCV003736459

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6023782del , CM000674.2:g.6023782del	GRCh38
NC_000012.11:g.6132948del , CM000674.1:g.6132948del	GRCh37
NC_000012.10:g.6003209del	NCBI36
NG_009072.1:g.105892del
NG_009072.2:g.105892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3231del MANE Select	ENSP00000261405.5:p.Glu1078SerfsTer?
ENST00000261405.9:c.3231del	ENSP00000261405.5:p.Glu1078SerfsTer?
ENST00000538635.5:n.421-29845del
NM_000552.3:c.3231del	NP_000543.2:p.Glu1078SerfsTer?
NM_000552.4:c.3231del	NP_000543.2:p.Glu1078SerfsTer?
NM_000552.5:c.3231del MANE Select	NP_000543.3:p.Glu1078SerfsTer?