Canonical Allele Identifier: CA228684
Gene: VWF HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.6018474del
GRCh37 chr12:g.6127640del
gnomAD v2:
12:6127639 TA / T
gnomAD v4:
chr12-6018473-TA-T
Joint Max Group AF 0.000005 (NFE)
Exomes Max Group AF 0.00000531 (NFE)
ClinVar RCV:
RCV000086816
RCV001787061
ClinVar Variation:
100407
dbSNP:
61750591
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018474del , CM000674.2:g.6018474del GRCh38
NC_000012.11:g.6127640del , CM000674.1:g.6127640del GRCh37
NC_000012.10:g.5997901del NCBI36
NG_009072.1:g.111197del
NG_009072.2:g.111197del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4944del MANE Select ENSP00000261405.5:p.Ile1649SerfsTer?
ENST00000261405.9:c.4944del ENSP00000261405.5:p.Ile1649SerfsTer?
ENST00000538635.5:n.421-24540del
NM_000552.3:c.4944del NP_000543.2:p.Ile1649SerfsTer?
NM_000552.4:c.4944del NP_000543.2:p.Ile1649SerfsTer?
NM_000552.5:c.4944del MANE Select NP_000543.3:p.Ile1649SerfsTer?
Search 100 bp 5'
Search 100 bp 3'