Canonical Allele Identifier: CA2617231094
Gene: VWF HGNC NCBI

Linked Data

gnomAD v4: 12-6031480-CAGGATGGT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031481_6031488del , CM000674.2:g.6031481_6031488del GRCh38
NC_000012.11:g.6140647_6140654del , CM000674.1:g.6140647_6140654del GRCh37
NC_000012.10:g.6010908_6010915del NCBI36
NG_009072.1:g.98183_98190del
NG_009072.2:g.98183_98190del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2776_2783del MANE Select ENSP00000261405.5:p.Thr926GlyfsTer7
ENST00000261405.9:c.2776_2783del ENSP00000261405.5:p.Thr926GlyfsTer7
ENST00000538635.5:n.421-37554_421-37547del
NM_000552.3:c.2776_2783del NP_000543.2:p.Thr926GlyfsTer7
NM_000552.4:c.2776_2783del NP_000543.2:p.Thr926GlyfsTer7
NM_000552.5:c.2776_2783del MANE Select NP_000543.3:p.Thr926GlyfsTer7
Search 100 bp 5'
Search 100 bp 3'