Canonical Allele Identifier: CA232299452
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs961042481
gnomAD v3: 12-6036288-CA-C
gnomAD v4: 12-6036288-CA-C
MyVariant Identifiers: chr12:g.6145455del (hg19) chr12:g.6036289del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036289del , CM000674.2:g.6036289del GRCh38
NC_000012.11:g.6145455del , CM000674.1:g.6145455del GRCh37
NC_000012.10:g.6015716del NCBI36
NG_009072.1:g.93382del
NG_009072.2:g.93382del

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.2546+99del MANE Select ENSP00000261405.5:n.2546+99del
ENST00000261405.9:c.2546+99del ENSP00000261405.5:n.2546+99del
ENST00000538635.5:n.421-42355del
NM_000552.3:c.2546+99del NP_000543.2:n.2546+99del
NM_000552.4:c.2546+99del NP_000543.2:n.2546+99del
NM_000552.5:c.2546+99del MANE Select NP_000543.3:n.2546+99del
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