Canonical Allele Identifier: CA658683073
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 619934
ClinVar RCV Id: RCV000760120
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6022792_6022793delinsCA , CM000674.2:g.6022792_6022793delinsCA GRCh38
NC_000012.11:g.6131958_6131959delinsCA , CM000674.1:g.6131958_6131959delinsCA GRCh37
NC_000012.10:g.6002219_6002220delinsCA NCBI36
NG_009072.1:g.106878_106879delinsTG
NG_009072.2:g.106878_106879delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3485_3486delinsTG MANE Select ENSP00000261405.5:p.Pro1162Leu
ENST00000261405.9:c.3485_3486delinsTG ENSP00000261405.5:p.Pro1162Leu
ENST00000538635.5:n.421-28859_421-28858delinsTG
NM_000552.3:c.3485_3486delinsTG NP_000543.2:p.Pro1162Leu
NM_000552.4:c.3485_3486delinsTG NP_000543.2:p.Pro1162Leu
NM_000552.5:c.3485_3486delinsTG MANE Select NP_000543.3:p.Pro1162Leu
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