Canonical Allele Identifier: CA2794406197
Gene: VWF HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023744_6023746del , CM000674.2:g.6023744_6023746del GRCh38
NC_000012.11:g.6132910_6132912del , CM000674.1:g.6132910_6132912del GRCh37
NC_000012.10:g.6003171_6003173del NCBI36
NG_009072.1:g.105927_105929del
NG_009072.2:g.105927_105929del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3266_3268del MANE Select ENSP00000261405.5:p.Cys1089del
ENST00000261405.9:c.3266_3268del ENSP00000261405.5:p.Cys1089del
ENST00000538635.5:n.421-29810_421-29808del
NM_000552.3:c.3266_3268del NP_000543.2:p.Cys1089del
NM_000552.4:c.3266_3268del NP_000543.2:p.Cys1089del
NM_000552.5:c.3266_3268del MANE Select NP_000543.3:p.Cys1089del
Search 100 bp 5'
Search 100 bp 3'