Canonical Allele Identifier: CA603483184
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1382244646
gnomAD v2: 12-6167201-C-CG
gnomAD v4: 12-6058035-C-CG
MyVariant Identifiers: chr12:g.6167201_6167202insG (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058040dup , CM000674.2:g.6058040dup GRCh38
NC_000012.11:g.6167206dup , CM000674.1:g.6167206dup GRCh37
NC_000012.10:g.6037467dup NCBI36
NG_009072.1:g.71635dup
NG_009072.2:g.71635dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1542dup MANE Select ENSP00000261405.5:p.Val515ArgfsTer?
ENST00000261405.9:c.1542dup ENSP00000261405.5:p.Val515ArgfsTer?
ENST00000538635.5:n.420+52479dup
NM_000552.3:c.1542dup NP_000543.2:p.Val515ArgfsTer?
NM_000552.4:c.1542dup NP_000543.2:p.Val515ArgfsTer?
NM_000552.5:c.1542dup MANE Select NP_000543.3:p.Val515ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'