Canonical Allele Identifier: CA2617230190

Gene: VWF

Linked Data

• gnomAD v4: 12-6022126-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6022128_6022129del , CM000674.2:g.6022128_6022129del	GRCh38
NC_000012.11:g.6131294_6131295del , CM000674.1:g.6131294_6131295del	GRCh37
NC_000012.10:g.6001555_6001556del	NCBI36
NG_009072.1:g.107543_107544del
NG_009072.2:g.107543_107544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3539-93_3539-92del MANE Select	ENSP00000261405.5:n.3539-93_3539-92del
ENST00000261405.9:c.3539-93_3539-92del	ENSP00000261405.5:n.3539-93_3539-92del
ENST00000538635.5:n.421-28194_421-28193del
NM_000552.3:c.3539-93_3539-92del	NP_000543.2:n.3539-93_3539-92del
NM_000552.4:c.3539-93_3539-92del	NP_000543.2:n.3539-93_3539-92del
NM_000552.5:c.3539-93_3539-92del MANE Select	NP_000543.3:n.3539-93_3539-92del