Canonical Allele Identifier: CA228480
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100299
ClinVar RCV Id: RCV000086698
dbSNP Id: rs61749383
MyVariant Identifiers: chr12:g.6128671_6128672insCAT (hg19) chr12:g.6019505_6019506insCAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019509_6019511dup , CM000674.2:g.6019509_6019511dup GRCh38
NC_000012.11:g.6128675_6128677dup , CM000674.1:g.6128675_6128677dup GRCh37
NC_000012.10:g.5998936_5998938dup NCBI36
NG_009072.1:g.110163_110165dup
NG_009072.2:g.110163_110165dup

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3910_3912dup MANE Select ENSP00000261405.5:p.Met1304_Glu1305insMet...
ENST00000261405.9:c.3910_3912dup ENSP00000261405.5:p.Met1304_Glu1305insMet...
ENST00000538635.5:n.421-25574_421-25572dup
NM_000552.3:c.3910_3912dup NP_000543.2:p.Met1304_Glu1305insMet
NM_000552.4:c.3910_3912dup NP_000543.2:p.Met1304_Glu1305insMet
NM_000552.5:c.3910_3912dup MANE Select NP_000543.3:p.Met1304_Glu1305insMet
Search 100 bp 5'
Search 100 bp 3'