Canonical Allele Identifier: CA6402784
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs775596301
ExAC: 12:6132905 AG / A
gnomAD v2: 12-6132905-AG-A
gnomAD v4: 12-6023739-AG-A
MyVariant Identifiers: chr12:g.6132906del (hg19) chr12:g.6023740del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023741del , CM000674.2:g.6023741del GRCh38
NC_000012.11:g.6132907del , CM000674.1:g.6132907del GRCh37
NC_000012.10:g.6003168del NCBI36
NG_009072.1:g.105931del
NG_009072.2:g.105931del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3270del MANE Select ENSP00000261405.5:p.Cys1091ValfsTer28
ENST00000261405.9:c.3270del ENSP00000261405.5:p.Cys1091ValfsTer28
ENST00000538635.5:n.421-29806del
NM_000552.3:c.3270del NP_000543.2:p.Cys1091ValfsTer28
NM_000552.4:c.3270del NP_000543.2:p.Cys1091ValfsTer28
NM_000552.5:c.3270del MANE Select NP_000543.3:p.Cys1091ValfsTer28
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