Canonical Allele Identifier: CA523078

Gene: VWA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1437105del , CM000663.2:g.1437105del	GRCh38
NC_000001.10:g.1372485del , CM000663.1:g.1372485del	GRCh37
NC_000001.9:g.1362348del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_022834.5:c.252del MANE Select	NP_073745.2:p.Glu85SerfsTer?
ENST00000476993.2:c.252del MANE Select	ENSP00000417185.1:p.Glu85SerfsTer?
NM_022834.4:c.252del	NP_073745.2:p.Glu85SerfsTer?
NM_199121.2:c.74-217del	NP_954572.2:n.74-217del
NM_199121.3:c.74-217del	NP_954572.2:n.74-217del
ENST00000338660.5:c.74-217del	ENSP00000423404.1:n.74-217del
ENST00000471398.1:c.372del	ENSP00000464343.1:p.Glu125SerfsTer?
ENST00000476993.1:c.252del	ENSP00000417185.1:p.Glu85SerfsTer?
ENST00000495558.1:c.147del	ENSP00000463643.1:p.Glu50SerfsTer?