Canonical Allele Identifier: CA2794406133
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6022177_6022178del , CM000674.2:g.6022177_6022178del GRCh38
NC_000012.11:g.6131343_6131344del , CM000674.1:g.6131343_6131344del GRCh37
NC_000012.10:g.6001604_6001605del NCBI36
NG_009072.1:g.107493_107494del
NG_009072.2:g.107493_107494del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3539-143_3539-142del MANE Select ENSP00000261405.5:n.3539-143_3539-142del
ENST00000261405.9:c.3539-143_3539-142del ENSP00000261405.5:n.3539-143_3539-142del
ENST00000538635.5:n.421-28244_421-28243del
NM_000552.3:c.3539-143_3539-142del NP_000543.2:n.3539-143_3539-142del
NM_000552.4:c.3539-143_3539-142del NP_000543.2:n.3539-143_3539-142del
NM_000552.5:c.3539-143_3539-142del MANE Select NP_000543.3:n.3539-143_3539-142del