Canonical Allele Identifier: CA2617230194

Gene: VWF

Linked Data

• gnomAD v4: 12-6022127-C-CCTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6022127_6022128insCTTT , CM000674.2:g.6022127_6022128insCTTT	GRCh38
NC_000012.11:g.6131293_6131294insCTTT , CM000674.1:g.6131293_6131294insCTTT	GRCh37
NC_000012.10:g.6001554_6001555insCTTT	NCBI36
NG_009072.1:g.107543_107544insAAAG
NG_009072.2:g.107543_107544insAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3539-93_3539-92insAAAG MANE Select	ENSP00000261405.5:n.3539-93_3539-92insAAAG
ENST00000261405.9:c.3539-93_3539-92insAAAG	ENSP00000261405.5:n.3539-93_3539-92insAAAG
ENST00000538635.5:n.421-28194_421-28193insAAAG
NM_000552.3:c.3539-93_3539-92insAAAG	NP_000543.2:n.3539-93_3539-92insAAAG
NM_000552.4:c.3539-93_3539-92insAAAG	NP_000543.2:n.3539-93_3539-92insAAAG
NM_000552.5:c.3539-93_3539-92insAAAG MANE Select	NP_000543.3:n.3539-93_3539-92insAAAG