Canonical Allele Identifier: CA2695215956
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031531dup , CM000674.2:g.6031531dup GRCh38
NC_000012.11:g.6140697dup , CM000674.1:g.6140697dup GRCh37
NC_000012.10:g.6010958dup NCBI36
NG_009072.1:g.98140dup
NG_009072.2:g.98140dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2733dup MANE Select ENSP00000261405.5:p.Lys912Ter
ENST00000261405.9:c.2733dup ENSP00000261405.5:p.Lys912Ter
ENST00000538635.5:n.421-37597dup
NM_000552.3:c.2733dup NP_000543.2:p.Lys912Ter
NM_000552.4:c.2733dup NP_000543.2:p.Lys912Ter
NM_000552.5:c.2733dup MANE Select NP_000543.3:p.Lys912Ter