Canonical Allele Identifier: CA2545606998
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6021970_6021971insTTAGAGA , CM000674.2:g.6021970_6021971insTTAGAGA GRCh38
NC_000012.11:g.6131136_6131137insTTAGAGA , CM000674.1:g.6131136_6131137insTTAGAGA GRCh37
NC_000012.10:g.6001397_6001398insTTAGAGA NCBI36
NG_009072.1:g.107700_107701insTCTCTAA
NG_009072.2:g.107700_107701insTCTCTAA

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3603_3604insTCTCTAA MANE Select ENSP00000261405.5:p.Ala1202SerfsTer19
ENST00000261405.9:c.3603_3604insTCTCTAA ENSP00000261405.5:p.Ala1202SerfsTer19
ENST00000538635.5:n.421-28037_421-28036insTCTCTAA
NM_000552.3:c.3603_3604insTCTCTAA NP_000543.2:p.Ala1202SerfsTer19
NM_000552.4:c.3603_3604insTCTCTAA NP_000543.2:p.Ala1202SerfsTer19
NM_000552.5:c.3603_3604insTCTCTAA MANE Select NP_000543.3:p.Ala1202SerfsTer19