Canonical Allele Identifier: CA2794406789
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058124_6058125insAAA , CM000674.2:g.6058124_6058125insAAA GRCh38
NC_000012.11:g.6167290_6167291insAAA , CM000674.1:g.6167290_6167291insAAA GRCh37
NC_000012.10:g.6037551_6037552insAAA NCBI36
NG_009072.1:g.71548_71549insTTT
NG_009072.2:g.71548_71549insTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1534-79_1534-78insTTT MANE Select ENSP00000261405.5:n.1534-79_1534-78insTTT
ENST00000261405.9:c.1534-79_1534-78insTTT ENSP00000261405.5:n.1534-79_1534-78insTTT
ENST00000538635.5:n.420+52392_420+52393insTTT
NM_000552.3:c.1534-79_1534-78insTTT NP_000543.2:n.1534-79_1534-78insTTT
NM_000552.4:c.1534-79_1534-78insTTT NP_000543.2:n.1534-79_1534-78insTTT
NM_000552.5:c.1534-79_1534-78insTTT MANE Select NP_000543.3:n.1534-79_1534-78insTTT