Canonical Allele Identifier: CA603102607
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1162520017
gnomAD v2: 12-6145233-TC-T
gnomAD v3: 12-6036067-TC-T
gnomAD v4: 12-6036067-TC-T
MyVariant Identifiers: chr12:g.6145234del (hg19) chr12:g.6036068del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036070del , CM000674.2:g.6036070del GRCh38
NC_000012.11:g.6145236del , CM000674.1:g.6145236del GRCh37
NC_000012.10:g.6015497del NCBI36
NG_009072.1:g.93603del
NG_009072.2:g.93603del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2546+320del MANE Select ENSP00000261405.5:n.2546+320del
ENST00000261405.9:c.2546+320del ENSP00000261405.5:n.2546+320del
ENST00000538635.5:n.421-42134del
NM_000552.3:c.2546+320del NP_000543.2:n.2546+320del
NM_000552.4:c.2546+320del NP_000543.2:n.2546+320del
NM_000552.5:c.2546+320del MANE Select NP_000543.3:n.2546+320del
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