Canonical Allele Identifier: CA2617231214

Gene: VWF

Linked Data

• gnomAD v4: 12-6031718-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6031726_6031727dup , CM000674.2:g.6031726_6031727dup	GRCh38
NC_000012.11:g.6140892_6140893dup , CM000674.1:g.6140892_6140893dup	GRCh37
NC_000012.10:g.6011153_6011154dup	NCBI36
NG_009072.1:g.97951_97952dup
NG_009072.2:g.97951_97952dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2686-142_2686-141dup MANE Select	ENSP00000261405.5:n.2686-142_2686-141dup
ENST00000261405.9:c.2686-142_2686-141dup	ENSP00000261405.5:n.2686-142_2686-141dup
ENST00000538635.5:n.421-37786_421-37785dup
NM_000552.3:c.2686-142_2686-141dup	NP_000543.2:n.2686-142_2686-141dup
NM_000552.4:c.2686-142_2686-141dup	NP_000543.2:n.2686-142_2686-141dup
NM_000552.5:c.2686-142_2686-141dup MANE Select	NP_000543.3:n.2686-142_2686-141dup