Canonical Allele Identifier: CA228846
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100502
ClinVar RCV Id: RCV000086916
dbSNP Id: rs61751309
MyVariant Identifiers: chr12:g.6058307del (hg19) chr12:g.5949141del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5949142del , CM000674.2:g.5949142del GRCh38
NC_000012.11:g.6058308del , CM000674.1:g.6058308del GRCh37
NC_000012.10:g.5928569del NCBI36
NG_009072.1:g.180530del
NG_009072.2:g.180530del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.8316del MANE Select ENSP00000261405.5:p.Cys2773AlafsTer?
ENST00000261405.9:c.8316del ENSP00000261405.5:p.Cys2773AlafsTer?
NM_000552.3:c.8316del NP_000543.2:p.Cys2773AlafsTer?
NM_000552.4:c.8316del NP_000543.2:p.Cys2773AlafsTer?
NM_000552.5:c.8316del MANE Select NP_000543.3:p.Cys2773AlafsTer?
Search 100 bp 5'
Search 100 bp 3'