Canonical Allele Identifier: CA415363787

Gene: VWA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1435810_1435819dup , CM000663.2:g.1435810_1435819dup	GRCh38
NC_000001.10:g.1371190_1371199dup , CM000663.1:g.1371190_1371199dup	GRCh37
NC_000001.9:g.1361053_1361062dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_022834.5:c.62_71dup MANE Select	NP_073745.2:p.Gly25ArgfsTer?
ENST00000476993.2:c.62_71dup MANE Select	ENSP00000417185.1:p.Gly25ArgfsTer?
NM_022834.4:c.62_71dup	NP_073745.2:p.Gly25ArgfsTer?
NM_199121.2:c.62_71dup	NP_954572.2:p.Gly25ArgfsTer?
NM_199121.3:c.62_71dup	NP_954572.2:p.Gly25ArgfsTer?
ENST00000338660.5:c.62_71dup	ENSP00000423404.1:p.Gly25ArgfsTer?
ENST00000471398.1:c.62_71dup	ENSP00000464343.1:p.Gly25ArgfsTer14
ENST00000476993.1:c.62_71dup	ENSP00000417185.1:p.Gly25ArgfsTer?
ENST00000495558.1:c.-33+664_-33+673dup	ENSP00000463643.1:n.-33+664_-33+673dup