Canonical Allele Identifier: CA915947877
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 627291
ClinVar RCV Id: RCV000852098
dbSNP Id: rs1591874316
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6034723_6034724insCAAA , CM000674.2:g.6034723_6034724insCAAA GRCh38
NC_000012.11:g.6143889_6143890insCAAA , CM000674.1:g.6143889_6143890insCAAA GRCh37
NC_000012.10:g.6014150_6014151insCAAA NCBI36
NG_009072.1:g.94947_94948insTTTG
NG_009072.2:g.94947_94948insTTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2649_2650insTTTG MANE Select ENSP00000261405.5:p.Leu884PhefsTer19
ENST00000261405.9:c.2649_2650insTTTG ENSP00000261405.5:p.Leu884PhefsTer19
ENST00000538635.5:n.421-40790_421-40789insTTTG
NM_000552.3:c.2649_2650insTTTG NP_000543.2:p.Leu884PhefsTer19
NM_000552.4:c.2649_2650insTTTG NP_000543.2:p.Leu884PhefsTer19
NM_000552.5:c.2649_2650insTTTG MANE Select NP_000543.3:p.Leu884PhefsTer19
Search 100 bp 5'
Search 100 bp 3'