Canonical Allele Identifier: CA2617231479
Gene: VWF HGNC NCBI

Linked Data

gnomAD v4: 12-6036410-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036411del , CM000674.2:g.6036411del GRCh38
NC_000012.11:g.6145577del , CM000674.1:g.6145577del GRCh37
NC_000012.10:g.6015838del NCBI36
NG_009072.1:g.93260del
NG_009072.2:g.93260del

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.2523del MANE Select ENSP00000261405.5:p.Val842Ter
ENST00000261405.9:c.2523del ENSP00000261405.5:p.Val842Ter
ENST00000538635.5:n.421-42477del
NM_000552.3:c.2523del NP_000543.2:p.Val842Ter
NM_000552.4:c.2523del NP_000543.2:p.Val842Ter
NM_000552.5:c.2523del MANE Select NP_000543.3:p.Val842Ter
Search 100 bp 5'
Search 100 bp 3'