Canonical Allele Identifier: CA2617229762

Gene: VWF

Linked Data

• gnomAD v4: 12-6018317-G-GCCAGCCCTCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6018327_6018337dup , CM000674.2:g.6018327_6018337dup	GRCh38
NC_000012.11:g.6127493_6127503dup , CM000674.1:g.6127493_6127503dup	GRCh37
NC_000012.10:g.5997754_5997764dup	NCBI36
NG_009072.1:g.111343_111353dup
NG_009072.2:g.111343_111353dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.5053+37_5053+47dup MANE Select	ENSP00000261405.5:n.5053+37_5053+47dup
ENST00000261405.9:c.5053+37_5053+47dup	ENSP00000261405.5:n.5053+37_5053+47dup
ENST00000538635.5:n.421-24394_421-24384dup
NM_000552.3:c.5053+37_5053+47dup	NP_000543.2:n.5053+37_5053+47dup
NM_000552.4:c.5053+37_5053+47dup	NP_000543.2:n.5053+37_5053+47dup
NM_000552.5:c.5053+37_5053+47dup MANE Select	NP_000543.3:n.5053+37_5053+47dup