Canonical Allele Identifier: CA2013892226
Gene: VWF HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058015_6058016delinsGC , CM000674.2:g.6058015_6058016delinsGC GRCh38
NC_000012.11:g.6167181_6167182delinsGC , CM000674.1:g.6167181_6167182delinsGC GRCh37
NC_000012.10:g.6037442_6037443delinsGC NCBI36
NG_009072.1:g.71655_71656delinsGC
NG_009072.2:g.71655_71656delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1562_1563delinsGC MANE Select ENSP00000261405.5:p.Cys521=
ENST00000261405.9:c.1562_1563delinsGC ENSP00000261405.5:p.Cys521=
ENST00000538635.5:n.420+52499_420+52500delinsGC
NM_000552.3:c.1562_1563delinsGC NP_000543.2:p.Cys521=
NM_000552.4:c.1562_1563delinsGC NP_000543.2:p.Cys521=
NM_000552.5:c.1562_1563delinsGC MANE Select NP_000543.3:p.Cys521=
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