Canonical Allele Identifier: CA2013872449

Gene: VWF

Linked Data

• dbSNP Id: rs1944085098
• gnomAD v4: 12-6018316-T-TGCCAGCCCTCG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6018317_6018327dup , CM000674.2:g.6018317_6018327dup	GRCh38
NC_000012.11:g.6127483_6127493dup , CM000674.1:g.6127483_6127493dup	GRCh37
NC_000012.10:g.5997744_5997754dup	NCBI36
NG_009072.1:g.111344_111354dup
NG_009072.2:g.111344_111354dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.5053+38_5053+48dup MANE Select	ENSP00000261405.5:n.5053+38_5053+48dup
ENST00000261405.9:c.5053+38_5053+48dup	ENSP00000261405.5:n.5053+38_5053+48dup
ENST00000538635.5:n.421-24393_421-24383dup
NM_000552.3:c.5053+38_5053+48dup	NP_000543.2:n.5053+38_5053+48dup
NM_000552.4:c.5053+38_5053+48dup	NP_000543.2:n.5053+38_5053+48dup
NM_000552.5:c.5053+38_5053+48dup MANE Select	NP_000543.3:n.5053+38_5053+48dup