Canonical Allele Identifier: CA2794406261
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018358del , CM000674.2:g.6018358del GRCh38
NC_000012.11:g.6127524del , CM000674.1:g.6127524del GRCh37
NC_000012.10:g.5997785del NCBI36
NG_009072.1:g.111313del
NG_009072.2:g.111313del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5053+7del MANE Select ENSP00000261405.5:n.5053+7del
ENST00000261405.9:c.5053+7del ENSP00000261405.5:n.5053+7del
ENST00000538635.5:n.421-24424del
NM_000552.3:c.5053+7del NP_000543.2:n.5053+7del
NM_000552.4:c.5053+7del NP_000543.2:n.5053+7del
NM_000552.5:c.5053+7del MANE Select NP_000543.3:n.5053+7del