Canonical Allele Identifier: CA232298122
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs869291915
gnomAD v3: 12-6023887-A-AG
gnomAD v4: 12-6023887-A-AG
MyVariant Identifiers: chr12:g.6133053_6133054insG (hg19) chr12:g.6023887_6023888insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023892dup , CM000674.2:g.6023892dup GRCh38
NC_000012.11:g.6133058dup , CM000674.1:g.6133058dup GRCh37
NC_000012.10:g.6003319dup NCBI36
NG_009072.1:g.105783dup
NG_009072.2:g.105783dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3223-101dup MANE Select ENSP00000261405.5:n.3223-101dup
ENST00000261405.9:c.3223-101dup ENSP00000261405.5:n.3223-101dup
ENST00000538635.5:n.421-29954dup
NM_000552.3:c.3223-101dup NP_000543.2:n.3223-101dup
NM_000552.4:c.3223-101dup NP_000543.2:n.3223-101dup
NM_000552.5:c.3223-101dup MANE Select NP_000543.3:n.3223-101dup
Search 100 bp 5'
Search 100 bp 3'