Canonical Allele Identifier: CA944315178
Gene: VWF HGNC NCBI

Linked Data

gnomAD v3: 12-6058125-TAA-T
gnomAD v4: 12-6058125-TAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058136_6058137del , CM000674.2:g.6058136_6058137del GRCh38
NC_000012.11:g.6167302_6167303del , CM000674.1:g.6167302_6167303del GRCh37
NC_000012.10:g.6037563_6037564del NCBI36
NG_009072.1:g.71544_71545del
NG_009072.2:g.71544_71545del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1534-83_1534-82del MANE Select ENSP00000261405.5:n.1534-83_1534-82del
ENST00000261405.9:c.1534-83_1534-82del ENSP00000261405.5:n.1534-83_1534-82del
ENST00000538635.5:n.420+52388_420+52389del
NM_000552.3:c.1534-83_1534-82del NP_000543.2:n.1534-83_1534-82del
NM_000552.4:c.1534-83_1534-82del NP_000543.2:n.1534-83_1534-82del
NM_000552.5:c.1534-83_1534-82del MANE Select NP_000543.3:n.1534-83_1534-82del
Search 100 bp 5'
Search 100 bp 3'