Canonical Allele Identifier: CA2013880768
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036115_6036122delinsTAATCCAA , CM000674.2:g.6036115_6036122delinsTAATCCAA GRCh38
NC_000012.11:g.6145281_6145288delinsTAATCCAA , CM000674.1:g.6145281_6145288delinsTAATCCAA GRCh37
NC_000012.10:g.6015542_6015549delinsTAATCCAA NCBI36
NG_009072.1:g.93549_93556delinsTTGGATTA
NG_009072.2:g.93549_93556delinsTTGGATTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2546+266_2546+273delinsTTGGATTA MANE Select ENSP00000261405.5:n.2546+266_2546+273delinsTTGGATTA
ENST00000261405.9:c.2546+266_2546+273delinsTTGGATTA ENSP00000261405.5:n.2546+266_2546+273delinsTTGGATTA
ENST00000538635.5:n.421-42188_421-42181delinsTTGGATTA
NM_000552.3:c.2546+266_2546+273delinsTTGGATTA NP_000543.2:n.2546+266_2546+273delinsTTGGATTA
NM_000552.4:c.2546+266_2546+273delinsTTGGATTA NP_000543.2:n.2546+266_2546+273delinsTTGGATTA
NM_000552.5:c.2546+266_2546+273delinsTTGGATTA MANE Select NP_000543.3:n.2546+266_2546+273delinsTTGGATTA