Canonical Allele Identifier: CA2617230184

Gene: VWF

Linked Data

• gnomAD v4: 12-6022116-GCCAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6022118_6022121del , CM000674.2:g.6022118_6022121del	GRCh38
NC_000012.11:g.6131284_6131287del , CM000674.1:g.6131284_6131287del	GRCh37
NC_000012.10:g.6001545_6001548del	NCBI36
NG_009072.1:g.107551_107554del
NG_009072.2:g.107551_107554del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3539-85_3539-82del MANE Select	ENSP00000261405.5:n.3539-85_3539-82del
ENST00000261405.9:c.3539-85_3539-82del	ENSP00000261405.5:n.3539-85_3539-82del
ENST00000538635.5:n.421-28186_421-28183del
NM_000552.3:c.3539-85_3539-82del	NP_000543.2:n.3539-85_3539-82del
NM_000552.4:c.3539-85_3539-82del	NP_000543.2:n.3539-85_3539-82del
NM_000552.5:c.3539-85_3539-82del MANE Select	NP_000543.3:n.3539-85_3539-82del