Canonical Allele Identifier: CA6402794
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs764226459
ExAC: 12:6132943 T / TC
gnomAD v2: 12-6132943-T-TC
gnomAD v4: 12-6023777-T-TC
MyVariant Identifiers: chr12:g.6132943_6132944insC (hg19) chr12:g.6023777_6023778insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023778dup , CM000674.2:g.6023778dup GRCh38
NC_000012.11:g.6132944dup , CM000674.1:g.6132944dup GRCh37
NC_000012.10:g.6003205dup NCBI36
NG_009072.1:g.105893dup
NG_009072.2:g.105893dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3232dup MANE Select ENSP00000261405.5:p.Glu1078GlyfsTer15
ENST00000261405.9:c.3232dup ENSP00000261405.5:p.Glu1078GlyfsTer15
ENST00000538635.5:n.421-29844dup
NM_000552.3:c.3232dup NP_000543.2:p.Glu1078GlyfsTer15
NM_000552.4:c.3232dup NP_000543.2:p.Glu1078GlyfsTer15
NM_000552.5:c.3232dup MANE Select NP_000543.3:p.Glu1078GlyfsTer15
Search 100 bp 5'
Search 100 bp 3'