Canonical Allele Identifier: CA2695216026
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018522_6018536del , CM000674.2:g.6018522_6018536del GRCh38
NC_000012.11:g.6127688_6127702del , CM000674.1:g.6127688_6127702del GRCh37
NC_000012.10:g.5997949_5997963del NCBI36
NG_009072.1:g.111136_111150del
NG_009072.2:g.111136_111150del

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.4883_4897del MANE Select ENSP00000261405.5:p.Ile1628_Pro1632del
ENST00000261405.9:c.4883_4897del ENSP00000261405.5:p.Ile1628_Pro1632del
ENST00000538635.5:n.421-24601_421-24587del
NM_000552.3:c.4883_4897del NP_000543.2:p.Ile1628_Pro1632del
NM_000552.4:c.4883_4897del NP_000543.2:p.Ile1628_Pro1632del
NM_000552.5:c.4883_4897del MANE Select NP_000543.3:p.Ile1628_Pro1632del