Canonical Allele Identifier: CA690482698
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1459316719
gnomAD v3: 12-6023753-TA-T
gnomAD v4: 12-6023753-TA-T
MyVariant Identifiers: chr12:g.6132920del (hg19) chr12:g.6023754del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023756del , CM000674.2:g.6023756del GRCh38
NC_000012.11:g.6132922del , CM000674.1:g.6132922del GRCh37
NC_000012.10:g.6003183del NCBI36
NG_009072.1:g.105917del
NG_009072.2:g.105917del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3256del MANE Select ENSP00000261405.5:p.Tyr1086ThrfsTer?
ENST00000261405.9:c.3256del ENSP00000261405.5:p.Tyr1086ThrfsTer?
ENST00000538635.5:n.421-29820del
NM_000552.3:c.3256del NP_000543.2:p.Tyr1086ThrfsTer?
NM_000552.4:c.3256del NP_000543.2:p.Tyr1086ThrfsTer?
NM_000552.5:c.3256del MANE Select NP_000543.3:p.Tyr1086ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'