Canonical Allele Identifier: CA2617232672
Gene: VWF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6057938_6057940dup , CM000674.2:g.6057938_6057940dup GRCh38
NC_000012.11:g.6167104_6167106dup , CM000674.1:g.6167104_6167106dup GRCh37
NC_000012.10:g.6037365_6037367dup NCBI36
NG_009072.1:g.71734_71736dup
NG_009072.2:g.71734_71736dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1641_1643dup MANE Select ENSP00000261405.5:p.Glu547_Asp548insGlu
ENST00000261405.9:c.1641_1643dup ENSP00000261405.5:p.Glu547_Asp548insGlu
ENST00000538635.5:n.420+52578_420+52580dup
NM_000552.3:c.1641_1643dup NP_000543.2:p.Glu547_Asp548insGlu
NM_000552.4:c.1641_1643dup NP_000543.2:p.Glu547_Asp548insGlu
NM_000552.5:c.1641_1643dup MANE Select NP_000543.3:p.Glu547_Asp548insGlu