Canonical Allele Identifier: CA6403037
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs745642318

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036358_6036360del , CM000674.2:g.6036358_6036360del GRCh38
NC_000012.11:g.6145524_6145526del , CM000674.1:g.6145524_6145526del GRCh37
NC_000012.10:g.6015785_6015787del NCBI36
NG_009072.1:g.93311_93313del
NG_009072.2:g.93311_93313del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2546+28_2546+30del MANE Select ENSP00000261405.5:n.2546+28_2546+30del
ENST00000261405.9:c.2546+28_2546+30del ENSP00000261405.5:n.2546+28_2546+30del
ENST00000538635.5:n.421-42426_421-42424del
NM_000552.3:c.2546+28_2546+30del NP_000543.2:n.2546+28_2546+30del
NM_000552.4:c.2546+28_2546+30del NP_000543.2:n.2546+28_2546+30del
NM_000552.5:c.2546+28_2546+30del MANE Select NP_000543.3:n.2546+28_2546+30del