Canonical Allele Identifier: CA228350

Gene: VWF

Linked Data

• ClinVar Variation Id: 100227
• ClinVar RCV Id: RCV000086618
• dbSNP Id: rs267607311
• MyVariant Identifiers: chr12:g.6145559_6145560insT (hg19) ; chr12:g.6036393_6036394insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6036395dup , CM000674.2:g.6036395dup	GRCh38
NC_000012.11:g.6145561dup , CM000674.1:g.6145561dup	GRCh37
NC_000012.10:g.6015822dup	NCBI36
NG_009072.1:g.93277dup
NG_009072.2:g.93277dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261405.10:c.2540dup MANE Select	ENSP00000261405.5:p.Asn847LysfsTer18
ENST00000261405.9:c.2540dup	ENSP00000261405.5:p.Asn847LysfsTer18
ENST00000538635.5:n.421-42460dup
NM_000552.3:c.2540dup	NP_000543.2:p.Asn847LysfsTer18
NM_000552.4:c.2540dup	NP_000543.2:p.Asn847LysfsTer18
NM_000552.5:c.2540dup MANE Select	NP_000543.3:p.Asn847LysfsTer18