Canonical Allele Identifier: CA2794406788
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058119_6058122del , CM000674.2:g.6058119_6058122del GRCh38
NC_000012.11:g.6167285_6167288del , CM000674.1:g.6167285_6167288del GRCh37
NC_000012.10:g.6037546_6037549del NCBI36
NG_009072.1:g.71549_71552del
NG_009072.2:g.71549_71552del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1534-78_1534-75del MANE Select ENSP00000261405.5:n.1534-78_1534-75del
ENST00000261405.9:c.1534-78_1534-75del ENSP00000261405.5:n.1534-78_1534-75del
ENST00000538635.5:n.420+52393_420+52396del
NM_000552.3:c.1534-78_1534-75del NP_000543.2:n.1534-78_1534-75del
NM_000552.4:c.1534-78_1534-75del NP_000543.2:n.1534-78_1534-75del
NM_000552.5:c.1534-78_1534-75del MANE Select NP_000543.3:n.1534-78_1534-75del