Canonical Allele Identifier: CA603090377
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1396190349
gnomAD v2: 12-6078060-CTGTT-C
gnomAD v3: 12-5968894-CTGTT-C
gnomAD v4: 12-5968894-CTGTT-C
MyVariant Identifiers: chr12:g.6078061_6078064del (hg19) chr12:g.5968895_5968898del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5968899_5968902del , CM000674.2:g.5968899_5968902del GRCh38
NC_000012.11:g.6078065_6078068del , CM000674.1:g.6078065_6078068del GRCh37
NC_000012.10:g.5948326_5948329del NCBI36
NG_009072.1:g.160773_160776del
NG_009072.2:g.160773_160776del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.7729+313_7729+316del MANE Select ENSP00000261405.5:n.7729+313_7729+316del
ENST00000261405.9:c.7729+313_7729+316del ENSP00000261405.5:n.7729+313_7729+316del
NM_000552.3:c.7729+313_7729+316del NP_000543.2:n.7729+313_7729+316del
NM_000552.4:c.7729+313_7729+316del NP_000543.2:n.7729+313_7729+316del
NM_000552.5:c.7729+313_7729+316del MANE Select NP_000543.3:n.7729+313_7729+316del
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