Canonical Allele Identifier: CA2695216053
Gene: VWF HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023714_6023715delinsGG , CM000674.2:g.6023714_6023715delinsGG GRCh38
NC_000012.11:g.6132880_6132881delinsGG , CM000674.1:g.6132880_6132881delinsGG GRCh37
NC_000012.10:g.6003141_6003142delinsGG NCBI36
NG_009072.1:g.105956_105957delinsCC
NG_009072.2:g.105956_105957delinsCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3295_3296delinsCC MANE Select ENSP00000261405.5:p.Cys1099Pro
ENST00000261405.9:c.3295_3296delinsCC ENSP00000261405.5:p.Cys1099Pro
ENST00000538635.5:n.421-29781_421-29780delinsCC
NM_000552.3:c.3295_3296delinsCC NP_000543.2:p.Cys1099Pro
NM_000552.4:c.3295_3296delinsCC NP_000543.2:p.Cys1099Pro
NM_000552.5:c.3295_3296delinsCC MANE Select NP_000543.3:p.Cys1099Pro
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