Canonical Allele Identifier: CA232297991

Gene: VWF

Linked Data

• dbSNP Id: rs934436904
• gnomAD v2: 12-6131332-A-AGG
• gnomAD v3: 12-6022166-A-AGG
• gnomAD v4: 12-6022166-A-AGG
• MyVariant Identifiers: chr12:g.6131332_6131333insGG (hg19) ; chr12:g.6022166_6022167insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6022169_6022170dup , CM000674.2:g.6022169_6022170dup	GRCh38
NC_000012.11:g.6131335_6131336dup , CM000674.1:g.6131335_6131336dup	GRCh37
NC_000012.10:g.6001596_6001597dup	NCBI36
NG_009072.1:g.107503_107504dup
NG_009072.2:g.107503_107504dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3539-133_3539-132dup MANE Select	ENSP00000261405.5:n.3539-133_3539-132dup
ENST00000261405.9:c.3539-133_3539-132dup	ENSP00000261405.5:n.3539-133_3539-132dup
ENST00000538635.5:n.421-28234_421-28233dup
NM_000552.3:c.3539-133_3539-132dup	NP_000543.2:n.3539-133_3539-132dup
NM_000552.4:c.3539-133_3539-132dup	NP_000543.2:n.3539-133_3539-132dup
NM_000552.5:c.3539-133_3539-132dup MANE Select	NP_000543.3:n.3539-133_3539-132dup