Canonical Allele Identifier: CA690484041

Gene: VWF

Linked Data

• dbSNP Id: rs1254734505
• MyVariant Identifiers: chr12:g.6078168_6078180del (hg19) ; chr12:g.5969002_5969014del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5969005_5969017del , CM000674.2:g.5969005_5969017del	GRCh38
NC_000012.11:g.6078171_6078183del , CM000674.1:g.6078171_6078183del	GRCh37
NC_000012.10:g.5948432_5948444del	NCBI36
NG_009072.1:g.160657_160669del
NG_009072.2:g.160657_160669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.7729+197_7729+209del MANE Select	ENSP00000261405.5:n.7729+197_7729+209del
ENST00000261405.9:c.7729+197_7729+209del	ENSP00000261405.5:n.7729+197_7729+209del
NM_000552.3:c.7729+197_7729+209del	NP_000543.2:n.7729+197_7729+209del
NM_000552.4:c.7729+197_7729+209del	NP_000543.2:n.7729+197_7729+209del
NM_000552.5:c.7729+197_7729+209del MANE Select	NP_000543.3:n.7729+197_7729+209del