Canonical Allele Identifier: CA2575053887
Gene: VWF HGNC NCBI

Linked Data

gnomAD v4: 12-6018359-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018360del , CM000674.2:g.6018360del GRCh38
NC_000012.11:g.6127526del , CM000674.1:g.6127526del GRCh37
NC_000012.10:g.5997787del NCBI36
NG_009072.1:g.111311del
NG_009072.2:g.111311del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5053+5del MANE Select ENSP00000261405.5:n.5053+5del
ENST00000261405.9:c.5053+5del ENSP00000261405.5:n.5053+5del
ENST00000538635.5:n.421-24426del
NM_000552.3:c.5053+5del NP_000543.2:n.5053+5del
NM_000552.4:c.5053+5del NP_000543.2:n.5053+5del
NM_000552.5:c.5053+5del MANE Select NP_000543.3:n.5053+5del
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