Canonical Allele Identifier: CA2575053920

Gene: VWF

Linked Data

• gnomAD v4: 12-6022120-ACTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6022129_6022131del , CM000674.2:g.6022129_6022131del	GRCh38
NC_000012.11:g.6131295_6131297del , CM000674.1:g.6131295_6131297del	GRCh37
NC_000012.10:g.6001556_6001558del	NCBI36
NG_009072.1:g.107548_107550del
NG_009072.2:g.107548_107550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3539-88_3539-86del MANE Select	ENSP00000261405.5:n.3539-88_3539-86del
ENST00000261405.9:c.3539-88_3539-86del	ENSP00000261405.5:n.3539-88_3539-86del
ENST00000538635.5:n.421-28189_421-28187del
NM_000552.3:c.3539-88_3539-86del	NP_000543.2:n.3539-88_3539-86del
NM_000552.4:c.3539-88_3539-86del	NP_000543.2:n.3539-88_3539-86del
NM_000552.5:c.3539-88_3539-86del MANE Select	NP_000543.3:n.3539-88_3539-86del