Canonical Allele Identifier: CA603482947
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1337194434
gnomAD v2: 12-6127502-TC-T
MyVariant Identifiers: chr12:g.6127503del (hg19) chr12:g.6018337del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018339del , CM000674.2:g.6018339del GRCh38
NC_000012.11:g.6127505del , CM000674.1:g.6127505del GRCh37
NC_000012.10:g.5997766del NCBI36
NG_009072.1:g.111334del
NG_009072.2:g.111334del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5053+28del MANE Select ENSP00000261405.5:n.5053+28del
ENST00000261405.9:c.5053+28del ENSP00000261405.5:n.5053+28del
ENST00000538635.5:n.421-24403del
NM_000552.3:c.5053+28del NP_000543.2:n.5053+28del
NM_000552.4:c.5053+28del NP_000543.2:n.5053+28del
NM_000552.5:c.5053+28del MANE Select NP_000543.3:n.5053+28del
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