Canonical Allele Identifier: CA690493000

Gene: VWF

Linked Data

• dbSNP Id: rs1280177699
• gnomAD v3: 12-6036267-CAG-C
• gnomAD v4: 12-6036267-CAG-C
• MyVariant Identifiers: chr12:g.6145434_6145435del (hg19) ; chr12:g.6036268_6036269del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6036272_6036273del , CM000674.2:g.6036272_6036273del	GRCh38
NC_000012.11:g.6145438_6145439del , CM000674.1:g.6145438_6145439del	GRCh37
NC_000012.10:g.6015699_6015700del	NCBI36
NG_009072.1:g.93402_93403del
NG_009072.2:g.93402_93403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2546+119_2546+120del MANE Select	ENSP00000261405.5:n.2546+119_2546+120del
ENST00000261405.9:c.2546+119_2546+120del	ENSP00000261405.5:n.2546+119_2546+120del
ENST00000538635.5:n.421-42335_421-42334del
NM_000552.3:c.2546+119_2546+120del	NP_000543.2:n.2546+119_2546+120del
NM_000552.4:c.2546+119_2546+120del	NP_000543.2:n.2546+119_2546+120del
NM_000552.5:c.2546+119_2546+120del MANE Select	NP_000543.3:n.2546+119_2546+120del