Canonical Allele Identifier: CA232298888
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs946387217
gnomAD v3: 12-6031736-C-CG
gnomAD v4: 12-6031736-C-CG
MyVariant Identifiers: chr12:g.6140902_6140903insG (hg19) chr12:g.6031736_6031737insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031741dup , CM000674.2:g.6031741dup GRCh38
NC_000012.11:g.6140907dup , CM000674.1:g.6140907dup GRCh37
NC_000012.10:g.6011168dup NCBI36
NG_009072.1:g.97934dup
NG_009072.2:g.97934dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2686-159dup MANE Select ENSP00000261405.5:n.2686-159dup
ENST00000261405.9:c.2686-159dup ENSP00000261405.5:n.2686-159dup
ENST00000538635.5:n.421-37803dup
NM_000552.3:c.2686-159dup NP_000543.2:n.2686-159dup
NM_000552.4:c.2686-159dup NP_000543.2:n.2686-159dup
NM_000552.5:c.2686-159dup MANE Select NP_000543.3:n.2686-159dup
Search 100 bp 5'
Search 100 bp 3'