Canonical Allele Identifier: CA1139655582

Gene: VWA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1437039_1437062del , CM000663.2:g.1437039_1437062del	GRCh38
NC_000001.10:g.1372419_1372442del , CM000663.1:g.1372419_1372442del	GRCh37
NC_000001.9:g.1362282_1362305del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476993.2:c.186_209del MANE Select	ENSP00000417185.1:p.Pro63_Ala70del
ENST00000338660.5:c.74-283_74-260del	ENSP00000423404.1:n.74-283_74-260del
ENST00000471398.1:c.306_329del	ENSP00000464343.1:p.Pro103_Ala110del
ENST00000476993.1:c.186_209del	ENSP00000417185.1:p.Pro63_Ala70del
ENST00000495558.1:c.81_104del	ENSP00000463643.1:p.Pro28_Ala35del
NM_022834.4:c.186_209del	NP_073745.2:p.Pro63_Ala70del
NM_199121.2:c.74-283_74-260del	NP_954572.2:n.74-283_74-260del
NM_022834.5:c.186_209del MANE Select	NP_073745.2:p.Pro63_Ala70del
NM_199121.3:c.74-283_74-260del	NP_954572.2:n.74-283_74-260del