Canonical Allele Identifier: CA2695216054
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023751_6023752insA , CM000674.2:g.6023751_6023752insA GRCh38
NC_000012.11:g.6132917_6132918insA , CM000674.1:g.6132917_6132918insA GRCh37
NC_000012.10:g.6003178_6003179insA NCBI36
NG_009072.1:g.105919_105920insT
NG_009072.2:g.105919_105920insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3258_3259insT MANE Select ENSP00000261405.5:p.Asp1087Ter
ENST00000261405.9:c.3258_3259insT ENSP00000261405.5:p.Asp1087Ter
ENST00000538635.5:n.421-29818_421-29817insT
NM_000552.3:c.3258_3259insT NP_000543.2:p.Asp1087Ter
NM_000552.4:c.3258_3259insT NP_000543.2:p.Asp1087Ter
NM_000552.5:c.3258_3259insT MANE Select NP_000543.3:p.Asp1087Ter