Canonical Allele Identifier: CA2617229125

Gene: VWF

Linked Data

• gnomAD v4: 12-6016283-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6016286del , CM000674.2:g.6016286del	GRCh38
NC_000012.11:g.6125452del , CM000674.1:g.6125452del	GRCh37
NC_000012.10:g.5995713del	NCBI36
NG_009072.1:g.113387del
NG_009072.2:g.113387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.5312-52del MANE Select	ENSP00000261405.5:n.5312-52del
ENST00000261405.9:c.5312-52del	ENSP00000261405.5:n.5312-52del
ENST00000538635.5:n.421-22350del
NM_000552.3:c.5312-52del	NP_000543.2:n.5312-52del
NM_000552.4:c.5312-52del	NP_000543.2:n.5312-52del
NM_000552.5:c.5312-52del MANE Select	NP_000543.3:n.5312-52del