Canonical Allele Identifier: CA2580086237
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 1695359
ClinVar RCV Id: RCV002264862
dbSNP Id: rs2136456030
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058034_6058035insAGCTGTCC , CM000674.2:g.6058034_6058035insAGCTGTCC GRCh38
NC_000012.11:g.6167200_6167201insAGCTGTCC , CM000674.1:g.6167200_6167201insAGCTGTCC GRCh37
NC_000012.10:g.6037461_6037462insAGCTGTCC NCBI36
NG_009072.1:g.71636_71637insGGACAGCT
NG_009072.2:g.71636_71637insGGACAGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1543_1544insGGACAGCT MANE Select ENSP00000261405.5:p.Val515GlyfsTer?
ENST00000261405.9:c.1543_1544insGGACAGCT ENSP00000261405.5:p.Val515GlyfsTer?
ENST00000538635.5:n.420+52480_420+52481insGGACAGCT
NM_000552.3:c.1543_1544insGGACAGCT NP_000543.2:p.Val515GlyfsTer?
NM_000552.4:c.1543_1544insGGACAGCT NP_000543.2:p.Val515GlyfsTer?
NM_000552.5:c.1543_1544insGGACAGCT MANE Select NP_000543.3:p.Val515GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'