Canonical Allele Identifier: CA944310861
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1944152747
gnomAD v3: 12-6023440-AC-A
gnomAD v4: 12-6023440-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023442del , CM000674.2:g.6023442del GRCh38
NC_000012.11:g.6132608del , CM000674.1:g.6132608del GRCh37
NC_000012.10:g.6002869del NCBI36
NG_009072.1:g.106230del
NG_009072.2:g.106230del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3379+190del MANE Select ENSP00000261405.5:n.3379+190del
ENST00000261405.9:c.3379+190del ENSP00000261405.5:n.3379+190del
ENST00000538635.5:n.421-29507del
NM_000552.3:c.3379+190del NP_000543.2:n.3379+190del
NM_000552.4:c.3379+190del NP_000543.2:n.3379+190del
NM_000552.5:c.3379+190del MANE Select NP_000543.3:n.3379+190del
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