Canonical Allele Identifier: CA2013874917
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023748_6023751delinsTGTC , CM000674.2:g.6023748_6023751delinsTGTC GRCh38
NC_000012.11:g.6132914_6132917delinsTGTC , CM000674.1:g.6132914_6132917delinsTGTC GRCh37
NC_000012.10:g.6003175_6003178delinsTGTC NCBI36
NG_009072.1:g.105920_105923delinsGACA
NG_009072.2:g.105920_105923delinsGACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3259_3262delinsGACA MANE Select ENSP00000261405.5:p.Asp1087=
ENST00000261405.9:c.3259_3262delinsGACA ENSP00000261405.5:p.Asp1087=
ENST00000538635.5:n.421-29817_421-29814delinsGACA
NM_000552.3:c.3259_3262delinsGACA NP_000543.2:p.Asp1087=
NM_000552.4:c.3259_3262delinsGACA NP_000543.2:p.Asp1087=
NM_000552.5:c.3259_3262delinsGACA MANE Select NP_000543.3:p.Asp1087=