Canonical Allele Identifier: CA232299421
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs758946881
gnomAD v3: 12-6036079-C-CT
gnomAD v4: 12-6036079-C-CT
MyVariant Identifiers: chr12:g.6145245_6145246insT (hg19) chr12:g.6036079_6036080insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036080dup , CM000674.2:g.6036080dup GRCh38
NC_000012.11:g.6145246dup , CM000674.1:g.6145246dup GRCh37
NC_000012.10:g.6015507dup NCBI36
NG_009072.1:g.93591dup
NG_009072.2:g.93591dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2546+308dup MANE Select ENSP00000261405.5:n.2546+308dup
ENST00000261405.9:c.2546+308dup ENSP00000261405.5:n.2546+308dup
ENST00000538635.5:n.421-42146dup
NM_000552.3:c.2546+308dup NP_000543.2:n.2546+308dup
NM_000552.4:c.2546+308dup NP_000543.2:n.2546+308dup
NM_000552.5:c.2546+308dup MANE Select NP_000543.3:n.2546+308dup
Search 100 bp 5'
Search 100 bp 3'