Canonical Allele Identifier: CA2013880755
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1944333305

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036071_6036078del , CM000674.2:g.6036071_6036078del GRCh38
NC_000012.11:g.6145237_6145244del , CM000674.1:g.6145237_6145244del GRCh37
NC_000012.10:g.6015498_6015505del NCBI36
NG_009072.1:g.93594_93601del
NG_009072.2:g.93594_93601del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2546+311_2546+318del MANE Select ENSP00000261405.5:n.2546+311_2546+318del
ENST00000261405.9:c.2546+311_2546+318del ENSP00000261405.5:n.2546+311_2546+318del
ENST00000538635.5:n.421-42143_421-42136del
NM_000552.3:c.2546+311_2546+318del NP_000543.2:n.2546+311_2546+318del
NM_000552.4:c.2546+311_2546+318del NP_000543.2:n.2546+311_2546+318del
NM_000552.5:c.2546+311_2546+318del MANE Select NP_000543.3:n.2546+311_2546+318del