Canonical Allele Identifier: CA2580086230
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 2306814
ClinVar RCV Id: RCV002879196
gnomAD v4: 12-6023778-C-CG
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023782dup , CM000674.2:g.6023782dup GRCh38
NC_000012.11:g.6132948dup , CM000674.1:g.6132948dup GRCh37
NC_000012.10:g.6003209dup NCBI36
NG_009072.1:g.105892dup
NG_009072.2:g.105892dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3231dup MANE Select ENSP00000261405.5:p.Glu1078ArgfsTer15
ENST00000261405.9:c.3231dup ENSP00000261405.5:p.Glu1078ArgfsTer15
ENST00000538635.5:n.421-29845dup
NM_000552.3:c.3231dup NP_000543.2:p.Glu1078ArgfsTer15
NM_000552.4:c.3231dup NP_000543.2:p.Glu1078ArgfsTer15
NM_000552.5:c.3231dup MANE Select NP_000543.3:p.Glu1078ArgfsTer15
Search 100 bp 5'
Search 100 bp 3'