Canonical Allele Identifier: CA690569126

Gene: VWF

Linked Data

• dbSNP Id: rs1300679094
• gnomAD v3: 12-6058157-A-AATATGAATG
• gnomAD v4: 12-6058157-A-AATATGAATG
• MyVariant Identifiers: chr12:g.6167323_6167324insATATGAATG (hg19) ; chr12:g.6058157_6058158insATATGAATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6058158_6058166dup , CM000674.2:g.6058158_6058166dup	GRCh38
NC_000012.11:g.6167324_6167332dup , CM000674.1:g.6167324_6167332dup	GRCh37
NC_000012.10:g.6037585_6037593dup	NCBI36
NG_009072.1:g.71505_71513dup
NG_009072.2:g.71505_71513dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.1534-122_1534-114dup MANE Select	ENSP00000261405.5:n.1534-122_1534-114dup
ENST00000261405.9:c.1534-122_1534-114dup	ENSP00000261405.5:n.1534-122_1534-114dup
ENST00000538635.5:n.420+52349_420+52357dup
NM_000552.3:c.1534-122_1534-114dup	NP_000543.2:n.1534-122_1534-114dup
NM_000552.4:c.1534-122_1534-114dup	NP_000543.2:n.1534-122_1534-114dup
NM_000552.5:c.1534-122_1534-114dup MANE Select	NP_000543.3:n.1534-122_1534-114dup