Canonical Allele Identifier: CA944310819

Gene: VWF

Linked Data

• gnomAD v3: 12-6023338-ATAAATCGAC-A
• gnomAD v4: 12-6023338-ATAAATCGAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6023340_6023348del , CM000674.2:g.6023340_6023348del	GRCh38
NC_000012.11:g.6132506_6132514del , CM000674.1:g.6132506_6132514del	GRCh37
NC_000012.10:g.6002767_6002775del	NCBI36
NG_009072.1:g.106324_106332del
NG_009072.2:g.106324_106332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3379+284_3379+292del MANE Select	ENSP00000261405.5:n.3379+284_3379+292del
ENST00000261405.9:c.3379+284_3379+292del	ENSP00000261405.5:n.3379+284_3379+292del
ENST00000538635.5:n.421-29413_421-29405del
NM_000552.3:c.3379+284_3379+292del	NP_000543.2:n.3379+284_3379+292del
NM_000552.4:c.3379+284_3379+292del	NP_000543.2:n.3379+284_3379+292del
NM_000552.5:c.3379+284_3379+292del MANE Select	NP_000543.3:n.3379+284_3379+292del