Canonical Allele Identifier: CA690569130
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1165381745
gnomAD v4: 12-6058194-GC-G
MyVariant Identifiers: chr12:g.6167361del (hg19) chr12:g.6058195del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058195del , CM000674.2:g.6058195del GRCh38
NC_000012.11:g.6167361del , CM000674.1:g.6167361del GRCh37
NC_000012.10:g.6037622del NCBI36
NG_009072.1:g.71476del
NG_009072.2:g.71476del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1534-151del MANE Select ENSP00000261405.5:n.1534-151del
ENST00000261405.9:c.1534-151del ENSP00000261405.5:n.1534-151del
ENST00000538635.5:n.420+52320del
NM_000552.3:c.1534-151del NP_000543.2:n.1534-151del
NM_000552.4:c.1534-151del NP_000543.2:n.1534-151del
NM_000552.5:c.1534-151del MANE Select NP_000543.3:n.1534-151del
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